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Tytuł:
Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples.
Autorzy:
Huang Y; West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, 610041, P.R. China.
Xiao Y; Department of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Qu S; Department of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Xue J; Department of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Zhang L; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, 610041, P.R. China.; Department of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.
Wang L; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, 610041, P.R. China. .; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China. .
Liang W; Department of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041, P.R. China. .
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Źródło:
BMC genomics [BMC Genomics] 2024 Feb 05; Vol. 25 (1), pp. 142. Date of Electronic Publication: 2024 Feb 05.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Polymorphism, Single Nucleotide*
Humans ; Exome Sequencing ; Genetic Testing/methods ; High-Throughput Nucleotide Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Autorzy:
AlAbdi L; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khouj E; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Helaby R; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Aljamal B; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Almulhim A; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hamid H; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Jaafar A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alshidi T; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Owain M; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Alhashem A; Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Pediatric Department, Division of Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
Al Tala S; Pediatric Department, Neonatal Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.
Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA.
Mardawi E; Maternal Fetal Medicine, Security Forces Hospital Program, Riyadh, Saudi Arabia.
Alkuraya H; Vitreoretinal Surgery and Ocular Genetics, Global Eye Care/Specialized Medical Center Hospital, Riyadh, Saudi Arabia.
Faqeih E; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
Afqi M; Metabolic and Genetic Center, King Salman Bin Abdulaziz Medical City, Almadinah Almunwarah, Saudi Arabia.
Alkhalifi S; Newborn Screening, Ministry of Health, Eastern Province, Saudi Arabia.
Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hagos ST; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Ahmadi W; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Nadeef S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Khabar KSA; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Putra A; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Angelov A; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Park C; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Reyes-Ramos AM; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Umer H; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Ullah I; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Driguez P; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Fukasawa Y; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Cheung MS; King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia.
Gallouzi IE; KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Engineering (BESE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. .; KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. .
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Źródło:
Genome medicine [Genome Med] 2023 Dec 14; Vol. 15 (1), pp. 114. Date of Electronic Publication: 2023 Dec 14.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Inheritance Patterns*
Infant, Newborn ; Humans ; Genes, Recessive ; Mutation ; Exome Sequencing ; Pedigree ; Eye Proteins/genetics ; Membrane Proteins/genetics ; Nuclear Proteins/genetics ; Protein Serine-Threonine Kinases/genetics ; Intracellular Signaling Peptides and Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
Autorzy:
Rodríguez-Solana P; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Arruti N; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.
Nieves-Moreno M; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.
Mena R; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
Rodríguez-Jiménez C; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Guerrero-Carretero M; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Acal JC; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Blasco J; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Peralta JM; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Del Pozo Á; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.; Clinical Bioinformatics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, CIBERER, La Paz University Hospital, 28046 Madrid, Spain.
Montaño VEF; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
Dios-Blázquez L; Clinical Bioinformatics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, CIBERER, La Paz University Hospital, 28046 Madrid, Spain.
Fernández-Alcalde C; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
González-Atienza C; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Sánchez-Cazorla E; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.
Gómez-Cano MLÁ; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.; Clinical Genetics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, CIBERER, La Paz University Hospital, 28046 Madrid, Spain.
Delgado-Mora L; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.; Clinical Genetics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, CIBERER, La Paz University Hospital, 28046 Madrid, Spain.
Noval S; Department of Pediatric Ophthalmology, IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.
Vallespín E; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jul 13; Vol. 24 (14). Date of Electronic Publication: 2023 Jul 13.
Typ publikacji:
Journal Article
MeSH Terms:
Cataract*/diagnosis
Cataract*/genetics
Exome*/genetics
Child ; Female ; Humans ; Male ; Exome Sequencing ; Family ; Mutation ; Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.
Autorzy:
Cardenas R; Norwich Medical School, University of East Anglia, Norwich, United Kingdom.
Prinsley P; ENT Department, James Paget University Hospitals NHS Foundation Trust, Great Yarmouth, Norfolk, United Kingdom.
Philpott C; Norwich Medical School, University of East Anglia, Norwich, United Kingdom.
Bhutta MF; Department of Clinical and Experimental Medicine, Brighton and Sussex Medical School, Brighton, United Kingdom.; ENT Department, Royal Sussex County Hospital, Brighton, United Kingdom.
Wilson E; Norwich Medical School, University of East Anglia, Norwich, United Kingdom.
Brewer DS; Norwich Medical School, University of East Anglia, Norwich, United Kingdom.; Earlham Institute, Norwich Research Park, Norwich, United Kingdom.
Jennings BA; Norwich Medical School, University of East Anglia, Norwich, United Kingdom.
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Źródło:
PloS one [PLoS One] 2023 Mar 15; Vol. 18 (3), pp. e0272174. Date of Electronic Publication: 2023 Mar 15 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Physical Therapy Modalities*
Exome*/genetics
Humans ; Exome Sequencing ; Pedigree ; Genetic Predisposition to Disease
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing.
Autorzy:
Belova V; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation. .
Shmitko A; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
Pavlova A; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
Afasizhev R; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
Cheranev V; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
Tabanakova A; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
Ponikarovskaya N; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
Rebrikov D; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
Korostin D; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation.
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Źródło:
BMC genomics [BMC Genomics] 2022 Aug 12; Vol. 23 (1), pp. 582. Date of Electronic Publication: 2022 Aug 12.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
High-Throughput Nucleotide Sequencing*/methods
Exons ; Humans ; INDEL Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Autorzy:
Rauf B; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Khan SY; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.
Jiao X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Irum B; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Ashfaq R; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Zehra M; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Khan AA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Shahzad M; Jinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical College, University of Health Sciences, Lahore, 54550, Pakistan.
Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.; Jinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical College, University of Health Sciences, Lahore, 54550, Pakistan.
Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA. .
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Źródło:
Scientific reports [Sci Rep] 2022 Oct 14; Vol. 12 (1), pp. 17218. Date of Electronic Publication: 2022 Oct 14.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*/genetics
Glaucoma*/congenital
Glaucoma*/genetics
Consanguinity ; Humans ; Latent TGF-beta Binding Proteins/genetics ; Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Feasibility of a novel non-invasive swab technique for serial whole-exome sequencing of cervical tumors during chemoradiation therapy.
Autorzy:
Bronk JK; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Kapadia C; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, United States of America.
Wu X; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Chapman BV; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Wang R; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Karpinets TV; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Song X; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Futreal AM; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Zhang J; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Klopp AH; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Colbert LE; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
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Źródło:
PloS one [PLoS One] 2022 Oct 06; Vol. 17 (10), pp. e0274457. Date of Electronic Publication: 2022 Oct 06 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Uterine Cervical Neoplasms*/genetics
Uterine Cervical Neoplasms*/therapy
Feasibility Studies ; Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exploiting adaptive immune receptor recombination read recoveries from exome files to identify subsets of ALL and to establish TCR features that correlate with better outcomes.
Autorzy:
Gozlan EC; Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.
Chobrutskiy BI; Department of Internal Medicine, Oregon Health and Science University Hospital, Portland, Oregon, USA.
Blanck G; Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.; Department of Immunology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA.
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Źródło:
International journal of laboratory hematology [Int J Lab Hematol] 2022 Oct; Vol. 44 (5), pp. 883-891. Date of Electronic Publication: 2022 May 09.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
T-Lymphocytes*
Complementarity Determining Regions ; Humans ; Recombination, Genetic ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.
Autorzy:
Zhang J; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Lu Y; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Tian X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Men X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Zhang Y; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Yan H; Department of Pediatrics, Hengshui people's Hospital, Hengshui, Hebei, China.
Yang F; Cipher Gene LLC, Beijing, China.
Yang Z; Cipher Gene LLC, Beijing, China.
Wang X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Oct; Vol. 10 (10), pp. e2036. Date of Electronic Publication: 2022 Aug 13.
Typ publikacji:
Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Proteins*
Adaptor Proteins, Signal Transducing ; Child ; Female ; Gene Frequency ; Homozygote ; Humans ; Exome Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The role of exome sequencing in childhood interstitial or diffuse lung disease.
Autorzy:
Temple SEL; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia. .; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia. .
Ho G; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.
Boggs K; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; Department of Clinical Genetics, Children's Hospital Westmead, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, NSW, Australia.
Vidic N; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.; Australian Genomics Health Alliance, Melbourne, VIC, Australia.
Mowat D; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, NSW, Australia.
Christodoulou J; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Schultz A; Wal-Yan Respiratory Research Centre, Telethon Kids Institute, University of Western Australia, Perth, Australia.; Department of Respiratory Medicine, Perth Children's Hospital, Nedlands, WA, Australia.; Division of Paediatrics, Faculty of Medicine, University of Western Australia, Perth, Australia.
Gayagay T; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, NSW, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia.
Zhu Y; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
Lunke S; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Armstrong D; Department of Paediatrics, Monash University, Clayton Rd, Clayton, VIC, Australia.; Department of Respiratory and Sleep Medicine, Monash Children's Hospital, Clayton Rd, Clayton, VIC, Australia.
Harrison J; University of Melbourne, Melbourne, VIC, Australia.; Department of Respiratory and Sleep Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia.
Kapur N; Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, Brisbane, QLD, Australia.; School of Medicine, University of Queensland, Brisbane, QLD, Australia.
McDonald T; The Canberra Hospital, Garran, ACT, Australia.
Selvadurai H; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Children's Hospital Westmead, Sydney, NSW, Australia.
Tai A; Paediatric Respiratory and Sleep Department, Women's and Children's Hospital, Adelaide, SA, Australia.; Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia.
Stark Z; Australian Genomics Health Alliance, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Jaffe A; School of Women's and Children's Health, Faculty of Medicine and Health, UNSW, Sydney, NSW, Australia.; Department Respiratory and Sleep Medicine, Sydney Children's Hospital, Randwick, NSW, Australia.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 09; Vol. 17 (1), pp. 350. Date of Electronic Publication: 2022 Sep 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*/genetics
Lung Diseases*
Australia ; Hospitals ; Humans ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Autorzy:
Narita K; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health, Tokyo, Japan.; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan.
Okuno Y; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.; Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Suzuki K; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Hamada M; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Yamaguchi N; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan.
Suzuki A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan.
Nishio Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Shiraki A; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Yamamori A; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Tsumura Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Sawamura F; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Kawaguchi M; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Wakamatsu M; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Kataoka S; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Kato K; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Asada H; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Nagoya, Japan.
Kubota T; Department of Pediatrics, Anjo Kosei Hospital, Anjo, Japan.
Muramatsu Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Kidokoro H; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Natsume J; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Mizuno S; Department of Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Japan.
Nakata T; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Inagaki H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
Ishihara N; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Yonekawa T; Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan.
Okumura A; Department of Pediatrics, Aichi Medical University, Nagakute, Japan.
Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Kojima S; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan. .
Takahashi Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2022 Aug 26; Vol. 12 (1), pp. 14589. Date of Electronic Publication: 2022 Aug 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Undiagnosed Diseases*
DNA Copy Number Variations ; Dual Oxidases ; Homozygote ; Humans ; Rare Diseases ; Uniparental Disomy ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Autorzy:
Tisserant E; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
Vitobello A; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Callegarin D; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Verdez S; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Bruel AL; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
Aho Glele LS; Hospital Hygiene and Epidemiology Unit, Dijon University Hospital, Dijon Cedex, France.
Sorlin A; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Viora-Dupont E; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Konyukh M; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Marle N; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Nambot S; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Hospital Hygiene and Epidemiology Unit, Dijon University Hospital, Dijon Cedex, France.
Moutton S; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.; Reference Center for Intellectual Disorders, Dijon University Hospital, Dijon, France.
Racine C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.
Garde A; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Delanne J; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.
Tran-Mau-Them F; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
Philippe C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Kuentz P; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
Poulleau M; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Payet M; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Poe C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
Thauvin-Robinet C; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Reference Center for Intellectual Disorders, Dijon University Hospital, Dijon, France.
Faivre L; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Reference Center for Intellectual Disorders, Dijon University Hospital, Dijon, France.
Mosca-Boidron AL; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
Thevenon J; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD, Dijon University Hospital, Dijon, France.
Duffourd Y; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.
Callier P; Inserm UMR 1231 GAD, Faculty of Health Sciences, University of Burgundy and Franche-Comté, Dijon, France.; Molecular and chromosomal genetics laboratory, Biology Transfer Platform, Dijon University Hospital, Dijon, France.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2022 Jul; Vol. 86 (4), pp. 171-180. Date of Electronic Publication: 2022 Feb 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Intellectual Disability*/genetics
Comparative Genomic Hybridization ; DNA Copy Number Variations ; Genomics ; Humans ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
Autorzy:
Gordon DM; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Cunningham D; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Zender G; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Lawrence PJ; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Penaloza JS; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Lin H; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Fitzgerald-Butt SM; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio, United States of America.
Myers K; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Duong T; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Corsmeier DJ; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Gaither JB; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Kuck HC; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Wijeratne S; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Moreland B; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Kelly BJ; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Garg V; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio, United States of America.
White P; Computational Genomics Group, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio, United States of America.
McBride KL; Center for Cardiovascular Research and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, Ohio, United States of America.
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Corporate Authors:
Baylor-Johns Hopkins Center for Mendelian Genomics
Źródło:
PLoS genetics [PLoS Genet] 2022 Jun 23; Vol. 18 (6), pp. e1010236. Date of Electronic Publication: 2022 Jun 23 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Exome*/genetics
Heart Defects, Congenital*/genetics
Bone Morphogenetic Proteins/genetics ; DNA-Binding Proteins/genetics ; Gene Frequency ; Genetic Association Studies ; Humans ; Infant, Newborn ; Pedigree ; Transcription Factors/genetics ; Exome Sequencing ; rho-Associated Kinases/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.
Autorzy:
Setty ST; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada.
Scott-Boyer MP; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada.
Cuppens T; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada.
Droit A; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Jun 18; Vol. 23 (12). Date of Electronic Publication: 2022 Jun 18.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Exome*/genetics
Rare Diseases*/diagnosis
Rare Diseases*/genetics
High-Throughput Nucleotide Sequencing ; Humans ; Machine Learning ; Exome Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Autorzy:
Schobers G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Schieving JH; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Hofste T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
de Wijs I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Wieskamp N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
van den Heuvel S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Galbany JC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Willemsen MAAP; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. .; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. .
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Źródło:
Genome medicine [Genome Med] 2022 Jun 17; Vol. 14 (1), pp. 66. Date of Electronic Publication: 2022 Jun 17.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Rare Diseases*/genetics
Child ; Genetic Testing/methods ; Humans ; Sequence Analysis, DNA ; Exome Sequencing/methods ; Workflow
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.
Autorzy:
Xie Y; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, United States of America.
Jiang W; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, United States of America.
Dong W; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, United States of America.
Li H; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, United States of America.
Jin SC; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.
Brueckner M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, United States of America.; Department of Pediatrics, Yale University, New Haven, Connecticut, United States of America.
Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, United States of America.; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, United States of America.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2022 Jun 07; Vol. 18 (6), pp. e1010252. Date of Electronic Publication: 2022 Jun 07 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Exome*
Heart Defects, Congenital*/genetics
Animals ; Case-Control Studies ; Cohort Studies ; Humans ; Mice ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The utility of hierarchical genetic testing in paediatric liver disease.
Autorzy:
Wang F; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Li Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Chen Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Xu Z; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Wang L; Department of Orthopedic Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, P. R. China.
Zhang TJ; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Yan J; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Cao L; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Wang P; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Li A; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Zhong Y; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Wu Z; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Qi X; CHESS Center, Institute of Portal Hypertension, The First Hospital of Lanzhou University, Lanzhou, China.
Zhang M; Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Wu N; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
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Źródło:
Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2022 May; Vol. 42 (5), pp. 1097-1108. Date of Electronic Publication: 2022 Mar 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Liver Diseases*/diagnosis
Liver Diseases*/genetics
Child ; Genetic Testing ; Humans ; Mutation ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands.
Autorzy:
Bos W; Department of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Bunnik EM; Department of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Mar; Vol. 10 (3), pp. e1882. Date of Electronic Publication: 2022 Feb 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Informed Consent*
Humans ; Netherlands ; Qualitative Research ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Autorzy:
Marwaha S; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA. .; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA. .
Knowles JW; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA.; Department of Medicine, Diabetes Research Center, Cardiovascular Institute and Prevention Research Center, Stanford, CA, USA.
Ashley EA; Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA. .; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA. .; Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA. .
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Źródło:
Genome medicine [Genome Med] 2022 Feb 28; Vol. 14 (1), pp. 23. Date of Electronic Publication: 2022 Feb 28.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms:
Exome*
Undiagnosed Diseases*
Genomics ; Humans ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A comprehensive assessment of exome capture methods for RNA sequencing of formalin-fixed and paraffin-embedded samples.
Autorzy:
Zong L; Wuhan BGI Technology Service Co., Ltd. BGI-Wuhan, Wuhan, China.; College of Life and Health Sciences, Wuhan University of Science and Technology, Wuhan, China.
Zhu Y; BGI Tech Solutions Co., Ltd. BGI-Shenzhen, Shenzhen, China.
Jiang Y; Wuhan BGI Technology Service Co., Ltd. BGI-Wuhan, Wuhan, China.
Xia Y; Wuhan BGI Technology Service Co., Ltd. BGI-Wuhan, Wuhan, China.
Liu Q; Wuhan BGI Technology Service Co., Ltd. BGI-Wuhan, Wuhan, China.
Jiang S; BGI Tech Solutions Co., Ltd. BGI-Shenzhen, Shenzhen, China. .
Pokaż więcej
Źródło:
BMC genomics [BMC Genomics] 2023 Dec 15; Vol. 24 (1), pp. 777. Date of Electronic Publication: 2023 Dec 15.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Exome*
Formaldehyde*
Gene Expression Profiling/methods ; Paraffin ; Paraffin Embedding/methods ; RNA/genetics ; Sequence Analysis, RNA ; Tissue Fixation/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 23395

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