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Tytuł:
Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing.
Autorzy:
Yan YH; NuProbe USA, Inc., Houston, TX, USA.
Chen SX; Department of Bioengineering, Rice University, 6500 Main St, Houston, TX, 77030, USA.
Cheng LY; Department of Bioengineering, Rice University, 6500 Main St, Houston, TX, 77030, USA.
Rodriguez AY; NuProbe USA, Inc., Houston, TX, USA.
Tang R; NuProbe USA, Inc., Houston, TX, USA.
Cabrera K; NuProbe USA, Inc., Houston, TX, USA.
Zhang DY; Department of Bioengineering, Rice University, 6500 Main St, Houston, TX, 77030, USA. .; Systems, Synthetic, and Physical Biology, Rice University, 6500 Main St, Houston, TX, 77030, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jun 02; Vol. 11 (1), pp. 11640. Date of Electronic Publication: 2021 Jun 02.
Typ publikacji:
Journal Article
MeSH Terms:
Exome*
Gene Frequency*
Mutation*
Carcinoma, Non-Small-Cell Lung/*genetics
DNA, Neoplasm/*genetics
Lung Neoplasms/*genetics
Alleles ; Carcinoma, Non-Small-Cell Lung/diagnosis ; Carcinoma, Non-Small-Cell Lung/pathology ; Fixatives ; Formaldehyde ; Humans ; Lung Neoplasms/diagnosis ; Lung Neoplasms/pathology ; Nucleic Acid Amplification Techniques ; Paraffin Embedding/methods ; Tissue Fixation/methods ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genomic and signalling pathway characterization of the NZM panel of melanoma cell lines: A valuable model for studying the impact of genetic diversity in melanoma.
Autorzy:
Tran KB; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand.
Gimenez G; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand.; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Tsai P; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Kolekar S; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Auckland Cancer Society Research Centre, University of Auckland, Auckland, New Zealand.
Rodger EJ; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand.; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Chatterjee A; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand.; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Jabed A; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Shih JH; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Joseph WR; Auckland Cancer Society Research Centre, University of Auckland, Auckland, New Zealand.
Marshall ES; Auckland Cancer Society Research Centre, University of Auckland, Auckland, New Zealand.
Wang Q; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Print CG; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand.
Eccles MR; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand.; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Baguley BC; Auckland Cancer Society Research Centre, University of Auckland, Auckland, New Zealand.
Shepherd PR; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland, New Zealand.; Auckland Cancer Society Research Centre, University of Auckland, Auckland, New Zealand.
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Źródło:
Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2021 Jan; Vol. 34 (1), pp. 136-143. Date of Electronic Publication: 2020 Jul 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Gene Expression Regulation, Neoplastic*
Models, Biological*
Mutation*
Biomarkers, Tumor/*genetics
Genomics/*methods
Melanoma/*genetics
Humans ; Melanoma/secondary ; Signal Transduction ; Transcriptome ; Tumor Cells, Cultured ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Autorzy:
Babić Božović I; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Leonardis L; Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Meznaric M; Institute of Anatomy, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Osredkar D; Department of Paediatric Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
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Źródło:
PloS one [PLoS One] 2021 Jun 09; Vol. 16 (6), pp. e0252953. Date of Electronic Publication: 2021 Jun 09 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Mutation*
Biomarkers/*metabolism
Muscular Diseases/*diagnosis
Tertiary Care Centers/*statistics & numerical data
Exome Sequencing/*methods
Adolescent ; Adult ; Aged ; Biomarkers/analysis ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Genetic Testing/methods ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Muscular Diseases/epidemiology ; Muscular Diseases/genetics ; Phenotype ; Prognosis ; Retrospective Studies ; Slovenia/epidemiology ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.
Autorzy:
Filatova EV; Institute of Molecular Genetics of National Research Centre, Moscow, Russia.
Krylova NS; Pirogov Russian National Research Medical University, Moscow, Russia.
Vlasov IN; Institute of Molecular Genetics of National Research Centre, Moscow, Russia.
Maslova MS; Pirogov Russian National Research Medical University, Moscow, Russia.
Poteshkina NG; Pirogov Russian National Research Medical University, Moscow, Russia.
Slominsky PA; Institute of Molecular Genetics of National Research Centre, Moscow, Russia.
Shadrina MI; Institute of Molecular Genetics of National Research Centre, Moscow, Russia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1808. Date of Electronic Publication: 2021 Oct 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Mutation*
Cardiomyopathy, Hypertrophic/*genetics
Adult ; Female ; Gene Frequency ; Humans ; Male ; Russia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Optimizing the evaluation of gene-targeted panels for tumor mutational burden estimation.
Autorzy:
Li Y; Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.
Luo Y; Department of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Oct 26; Vol. 11 (1), pp. 21072. Date of Electronic Publication: 2021 Oct 26.
Typ publikacji:
Evaluation Study; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genes, Neoplasm*
Mutation*
Exome Sequencing*
Biomarkers, Tumor/*genetics
Neoplasms/*genetics
Tumor Burden/*genetics
Humans ; Neoplasms/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.
Autorzy:
Luo S; Precision Medical Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Bi B; Rehabilitation Department, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Zhang W; BGI Genomics, BGI-Shenzhen, Shenzhen, China.; BGI-Wuhan Clinical Laboratories, BGI-Shenzhen, Wuhan, China.; Department of Biology, University of Copenhagen, Copenhagen, Denmark.
Zhou R; BGI Genomics, BGI-Shenzhen, Shenzhen, China.; BGI-Wuhan Clinical Laboratories, BGI-Shenzhen, Wuhan, China.; State Key Laboratory of Agricultural Microbiology, College of Life Science and Technology, Huazhong Agricultural University, Wuhan, China.
Chen W; BGI Genomics, BGI-Shenzhen, Shenzhen, China.; BGI-Wuhan Clinical Laboratories, BGI-Shenzhen, Wuhan, China.
Zhao P; Precision Medical Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Huang Y; Precision Medical Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Yuan L; Ultrasonography Department, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
He X; Precision Medical Laboratory, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1798. Date of Electronic Publication: 2021 Sep 01.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Exome Sequencing*
Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Histone-Lysine N-Methyltransferase/*genetics
Myeloid-Lymphoid Leukemia Protein/*genetics
Alleles ; Amino Acid Substitution ; Child ; Child, Preschool ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Phenotype ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Discovery of photosynthesis genes through whole-genome sequencing of acetate-requiring mutants of Chlamydomonas reinhardtii.
Autorzy:
Wakao S; Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, California, United States of America.; Department of Plant and Microbial Biology, University of California, Berkeley, California, United States of America.
Shih PM; Department of Plant and Microbial Biology, University of California, Berkeley, California, United States of America.; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, United States of America.; Feedstocks Division, Joint BioEnergy Institute, Emeryville, California, United States of America.; Innovative Genomics Institute, University of California, Berkeley, California, United States of America.
Guan K; Department of Plant and Microbial Biology, University of California, Berkeley, California, United States of America.; Howard Hughes Medical Institute, University of California, Berkeley, California, United States of America.
Schackwitz W; Joint Genome Institute, Berkeley, California, United States of America.
Ye J; Department of Plant and Microbial Biology, University of California, Berkeley, California, United States of America.; Howard Hughes Medical Institute, University of California, Berkeley, California, United States of America.
Patel D; Department of Plant and Microbial Biology, University of California, Berkeley, California, United States of America.
Shih RM; Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, California, United States of America.
Dent RM; Department of Plant and Microbial Biology, University of California, Berkeley, California, United States of America.
Chovatia M; Joint Genome Institute, Berkeley, California, United States of America.
Sharma A; Joint Genome Institute, Berkeley, California, United States of America.
Martin J; Joint Genome Institute, Berkeley, California, United States of America.
Wei CL; Joint Genome Institute, Berkeley, California, United States of America.
Niyogi KK; Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, California, United States of America.; Department of Plant and Microbial Biology, University of California, Berkeley, California, United States of America.; Howard Hughes Medical Institute, University of California, Berkeley, California, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2021 Sep 07; Vol. 17 (9), pp. e1009725. Date of Electronic Publication: 2021 Sep 07 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Mutation*
Exome Sequencing*
Acetates/*metabolism
Chlamydomonas reinhardtii/*genetics
Photosynthesis/*genetics
Chlamydomonas reinhardtii/metabolism ; Gene Deletion ; Gene Duplication
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole-exome sequencing identifies functional classes of gene mutations associated with bone marrow failure in pediatric Fanconi Anemia patients.
Autorzy:
Wang S; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Zbib NH; Department of Pediatrics, Geisel School of Medicine at Dartmouth College, The Norris Cotton Cancer Center, Lebanon, NH, USA.
Skaist A; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Gui J; Department of Biomedical Data Science, Geisel School of Medicine, Lebanon, NH, USA.
Madero-Marroquin R; Icahn School of Medicine Mount and Sinai West and Mount Sinai Morningside, New York, NY, USA.
De Marchi F; Department of Hematology, Juntendo University, Tokyo, Japan.
Gondek LP; The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Matsui W; LIVESTRONG Cancer Institutes, Dell Medical School, The University of Texas at Austin, Austin, TX, USA.
Lau BW; Department of Pediatrics, Geisel School of Medicine at Dartmouth College, The Norris Cotton Cancer Center, Lebanon, NH, USA.
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Źródło:
European journal of haematology [Eur J Haematol] 2021 Aug; Vol. 107 (2), pp. 293-294. Date of Electronic Publication: 2021 May 24.
Typ publikacji:
Letter
MeSH Terms:
Mutation*
Exome Sequencing*
Bone Marrow Failure Disorders/*genetics
Fanconi Anemia/*genetics
Genomic Instability/*genetics
Bone Marrow Failure Disorders/etiology ; Cell Movement/genetics ; Child ; Fanconi Anemia/complications ; Gene Ontology ; Humans ; Mitosis/genetics ; Protein Transport/genetics ; Thumb/abnormalities
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analysis of 7,815 cancer exomes reveals associations between mutational processes and somatic driver mutations.
Autorzy:
Poulos RC; Prince of Wales Clinical School and Lowy Cancer Research Centre, Faculty of Medicine, UNSW Sydney, NSW, Australia.; Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney, NSW, Australia.
Wong YT; Prince of Wales Clinical School and Lowy Cancer Research Centre, Faculty of Medicine, UNSW Sydney, NSW, Australia.
Ryan R; Prince of Wales Clinical School and Lowy Cancer Research Centre, Faculty of Medicine, UNSW Sydney, NSW, Australia.
Pang H; School of Public Health, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
Wong JWH; Prince of Wales Clinical School and Lowy Cancer Research Centre, Faculty of Medicine, UNSW Sydney, NSW, Australia.; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
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Źródło:
PLoS genetics [PLoS Genet] 2018 Nov 09; Vol. 14 (11), pp. e1007779. Date of Electronic Publication: 2018 Nov 09 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exome*
Mutation*
Neoplasms/*genetics
Brain Neoplasms/genetics ; Carcinogenesis/genetics ; Cohort Studies ; Colorectal Neoplasms/genetics ; DNA Mutational Analysis ; DNA Replication/genetics ; DNA, Neoplasm/genetics ; Databases, Genetic ; Female ; Genome, Human ; Humans ; Logistic Models ; Male ; Models, Genetic ; Mutagenesis ; Neoplastic Syndromes, Hereditary/genetics ; Oncogenes ; Proto-Oncogene Proteins B-raf/genetics ; Exome Sequencing
SCR Disease Name:
Turcot syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction.
Autorzy:
Zhou Y; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
Qian Z; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
Yang J; Department of Cardiology, Huai'an First People's Hospital, Huai'an, Jiangsu 223300, P.R. China.
Zhu M; Department of Epidemiology and Biostatistics, Ministry of Education, Key Laboratory for Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 211166, P.R. China.
Hou X; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
Wang Y; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
Wu H; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
Zou J; Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2018 May; Vol. 17 (5), pp. 7325-7330. Date of Electronic Publication: 2018 Mar 19.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Exome Sequencing*
Isolated Noncompaction of the Ventricular Myocardium/*genetics
Adult ; Asian People/genetics ; Exome ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Autorzy:
Abu Diab A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
AlTalbishi A; St John Eye Hospital, Jerusalem, Israel.
Rosin B; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Kanaan M; Hereditary Research Lab, Bethlehem University, Jerusalem, Israel.
Kamal L; Hereditary Research Lab, Bethlehem University, Jerusalem, Israel.
Swaroop A; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Chowers I; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Khateb S; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2019 Sep; Vol. 97 (6), pp. e877-e886. Date of Electronic Publication: 2019 Mar 29.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Carboxypeptidases/*genetics
DNA/*genetics
Retina/*pathology
Retinal Dystrophies/*genetics
Exome Sequencing/*methods
Adult ; Carboxypeptidases/metabolism ; DNA Mutational Analysis ; Electrooculography ; Electroretinography ; Exome ; Female ; Homozygote ; Humans ; Male ; Pedigree ; Retinal Dystrophies/diagnosis ; Tomography, Optical Coherence ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.
Autorzy:
Assiry AA; Department of Pediatric Dentistry, College of Dentistry, Najran University, Najran, Saudi Arabia.
Albalawi AM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia.
Zafar MS; College of Dentistry, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Department of Dental Materials, Islamic International Dental College, Riphah International University, Islamabad, 44000, Pakistan.
Khan SD; Department of Pediatric Dentistry, College of Dentistry, Najran University, Najran, Saudi Arabia.
Ullah A; Cardiac Sciences department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Almatrafi A; College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.
Ramzan K; Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre Riyadh, Riyadh, Saudi Arabia.
Basit S; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia. .
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Źródło:
Scientific reports [Sci Rep] 2019 Nov 11; Vol. 9 (1), pp. 16469. Date of Electronic Publication: 2019 Nov 11.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Polymorphism, Single Nucleotide*
DNA-Binding Proteins/*genetics
Exome/*genetics
Tooth Diseases/*genetics
Tooth Diseases/*pathology
Adolescent ; Child ; Female ; Genotype ; Humans ; Male ; Phenotype ; Exome Sequencing
SCR Disease Name:
Failure of Tooth Eruption, Primary
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.
Autorzy:
Yamaguchi I; Laboratory of Clinical Omics Research, Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.
Watanabe T; Laboratory of Clinical Omics Research, Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.
Ohara O; Laboratory of Clinical Omics Research, Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.
Hasegawa Y; Laboratory of Clinical Omics Research, Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.
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Źródło:
PloS one [PLoS One] 2019 Sep 13; Vol. 14 (9), pp. e0222562. Date of Electronic Publication: 2019 Sep 13 (Print Publication: 2019).
Typ publikacji:
Journal Article
MeSH Terms:
High-Throughput Nucleotide Sequencing/*methods
Mutation/*genetics
Sequence Analysis, DNA/*methods
Exome Sequencing/*methods
Cost-Benefit Analysis ; DNA/genetics ; Exome/genetics ; Gene Library ; Humans ; Polymerase Chain Reaction/methods ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study.
Autorzy:
Liu X; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Central Lab, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Lai H; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Department of Obstetrics, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Xin S; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Department of Obstetrics, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Li Z; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Zeng X; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Department of Obstetrics, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Nie L; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Department of Obstetrics, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Liang Z; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Department of Obstetrics, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Wu M; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Department of Obstetrics, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.
Zheng J; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China. .; Department of Obstetrics, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China. .
Zou Y; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China. .; Central Lab, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2021 Feb 05; Vol. 21 (1), pp. 110. Date of Electronic Publication: 2021 Feb 05.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Exome Sequencing*
ATP-Binding Cassette Transporters/*genetics
Cholestasis, Intrahepatic/*genetics
Pregnancy Complications/*genetics
Aspartate Aminotransferases/blood ; Bile Acids and Salts/blood ; Bilirubin/blood ; Case-Control Studies ; Cholesterol/blood ; Female ; Gene Frequency ; Humans ; Lipoproteins, HDL/blood ; Multidrug Resistance-Associated Protein 2 ; Pregnancy ; Triglycerides/blood
SCR Disease Name:
Intrahepatic Cholestasis of Pregnancy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Open the Technical Black Box of Tumor Mutational Burden (TMB): Factors Affecting Harmonization and Standardization of Panel-Based TMB.
Autorzy:
Sung MT; Division of Hematology and Oncology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei 104217, Taiwan.; Division of Hematology and Medical Oncology, Mennonite Christian Hospital, Hualien 970472, Taiwan.
Wang YH; Division of Pathology and Medical Informatics, ACT Genomics Co., Ltd., Taipei 114065, Taiwan.; ACT Precision Medicine Clinic, Taipei 114063, Taiwan.; College of Nursing, National Taipei University of Nursing and Health Sciences, Taipei 112303, Taiwan.; Institute of Public Health, National Yang Ming Chao Tung University, Taipei 112304, Taiwan.
Li CF; Department of Medical Research, Chi Mei Medical Center, Tainan 710402, Taiwan.; Institute of Precision Medicine, National Sun Yat-Sen University, Kaohsiung 804201, Taiwan.; National Institute of Cancer Research, National Health Research Institutes, Tainan 704016, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 May 03; Vol. 23 (9). Date of Electronic Publication: 2022 May 03.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Biomarkers, Tumor*/genetics
Mutation*/genetics
Neoplasms*/genetics
Neoplasms*/pathology
High-Throughput Nucleotide Sequencing ; Humans ; Reference Standards ; Tumor Burden/genetics ; Exome Sequencing
Czasopismo naukowe
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Tytuł:
Prognostic mutational subtyping in de novo diffuse large B-cell lymphoma.
Autorzy:
Kim E; Department of Biostatistics, Product Development, Genentech, Inc, 1 DNA Way, MS 444A, South San Francisco, CA, 94080, USA.
Jiang Y; Oncology Biomarker Development, Genentech, Inc, South San Francisco, CA, USA.
Xu T; PHC Analytics, Product Development, F. Hoffmann La-Roche Ltd, Basel, Switzerland.
Bazeos A; Roche Products Ltd, Welwyn Garden City, England.
Knapp A; Pharma Development Clinical Oncology, F. Hoffmann La-Roche Ltd, Basel, Switzerland.
Bolen CR; Bioinformatics & Computational Biology, Genentech, Inc, South San Francisco, CA, USA.
Humphrey K; Roche Products Ltd, Welwyn Garden City, England.
Nielsen TG; Pharma Development Clinical Oncology, F. Hoffmann La-Roche Ltd, Basel, Switzerland.
Penuel E; Oncology Biomarker Development, Genentech, Inc, South San Francisco, CA, USA.
Paulson JN; Department of Biostatistics, Product Development, Genentech, Inc, 1 DNA Way, MS 444A, South San Francisco, CA, 94080, USA. .
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Źródło:
BMC cancer [BMC Cancer] 2022 Mar 03; Vol. 22 (1), pp. 231. Date of Electronic Publication: 2022 Mar 03.
Typ publikacji:
Journal Article
MeSH Terms:
Lymphoma, Large B-Cell, Diffuse/*genetics
Mutation/*genetics
Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Bridged Bicyclo Compounds, Heterocyclic/therapeutic use ; Clinical Trials, Phase II as Topic ; Clinical Trials, Phase III as Topic ; Enhancer of Zeste Homolog 2 Protein/genetics ; Female ; Humans ; Lymphoma, Large B-Cell, Diffuse/drug therapy ; Male ; Middle Aged ; Prognosis ; Proto-Oncogene Proteins c-bcl-2/genetics ; RNA-Seq ; Sulfonamides/therapeutic use ; Treatment Outcome ; Exome Sequencing
Czasopismo naukowe
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Tytuł:
Geneticists find clues to unexplained child deaths.
Autorzy:
Servick K
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Źródło:
Science (New York, N.Y.) [Science] 2022 Feb 11; Vol. 375 (6581), pp. 597-598. Date of Electronic Publication: 2022 Feb 10.
Typ publikacji:
Wiadomości
MeSH Terms:
Mutation*
Death, Sudden/*etiology
Adolescent ; Arrhythmias, Cardiac/genetics ; Child ; Child, Preschool ; Epilepsy/genetics ; Genetic Testing ; Humans ; Infant ; Neurodevelopmental Disorders/genetics ; Registries ; Sudden Infant Death/etiology ; Sudden Infant Death/genetics ; Exome Sequencing ; Young Adult
Periodyk
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A mixture model for signature discovery from sparse mutation data.
Autorzy:
Sason I; Blavatnik School of Computer Science, Tel Aviv University, Tel Aviv, 69978, Israel.
Chen Y; Department of Computer Science and Center for Bioinformatics and Computational Biology, University of Maryland, College Park, 20742, MD, USA.
Leiserson MDM; Department of Computer Science and Center for Bioinformatics and Computational Biology, University of Maryland, College Park, 20742, MD, USA.
Sharan R; Blavatnik School of Computer Science, Tel Aviv University, Tel Aviv, 69978, Israel. .
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Źródło:
Genome medicine [Genome Med] 2021 Nov 01; Vol. 13 (1), pp. 173. Date of Electronic Publication: 2021 Nov 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Mutation*
Neoplasms/*genetics
Algorithms ; Exome ; Humans ; Lung Neoplasms/genetics ; Models, Genetic ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.
Autorzy:
Jalali-Sefid-Dashti M; South African Medical Research Council Bioinformatics Unit, South African National Bioinformatics Institute, University of the Western Cape, Bellville, 7535, South Africa.
Nel M; Division of Neurology, Department of Medicine, University of Cape Town, Observatory, 7925, South Africa.
Heckmann JM; E8-74, Neurology, New Groote Schuur Hospital Observatory, Cape Town, 7925, South Africa.
Gamieldien J; South African National Bioinformatics Institute, University of the Western Cape, Private Bag X17, Bellville, 7535, South Africa. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2018 Jun 07; Vol. 19 (1), pp. 95. Date of Electronic Publication: 2018 Jun 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Dysferlin/*genetics
Exome/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Muscular Dystrophies, Limb-Girdle/*pathology
Neuromuscular Diseases/*genetics
Neuromuscular Diseases/*pathology
Adolescent ; Adult ; Female ; Follow-Up Studies ; Heterozygote ; Homozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Prognosis ; Siblings ; Exome Sequencing ; Young Adult
SCR Disease Name:
Dysferlinopathy
Czasopismo naukowe
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Tytuł:
Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension.
Autorzy:
Chida-Nagai A; Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.; Department of Pediatric Cardiology, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.
Shintani M; Department of Pediatric Cardiology, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.
Sato H; Department of Preventive Medicine and Public Health, Tokyo Medical University, Shinjuku, Tokyo, Japan.
Nakayama T; Department of Pediatrics, Toho University Omori Medical Center, Ota, Tokyo, Japan.
Nii M; Department of Cardiology, Shizuoka Children's Hospital, Shizuoka, Shizuoka, Japan.
Akagawa H; Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.
Furukawa T; Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.; Department of Histopathology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.
Rana A; Division of Respiratory Medicine, Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
Furutani Y; Department of Pediatric Cardiology, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.
Inai K; Department of Pediatric Cardiology, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.
Nonoyama S; Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
Nakanishi T; Department of Pediatric Cardiology, Tokyo Women's Medical University, Shinjuku, Tokyo, Japan.
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Źródło:
PloS one [PLoS One] 2019 Jan 31; Vol. 14 (1), pp. e0211450. Date of Electronic Publication: 2019 Jan 31 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Exome/*genetics
Familial Primary Pulmonary Hypertension/*genetics
Familial Primary Pulmonary Hypertension/*pathology
Muscle, Smooth, Vascular/*pathology
Pulmonary Artery/*pathology
Ubiquitin-Protein Ligases/*genetics
Adolescent ; Adult ; Apoptosis ; Cells, Cultured ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Muscle, Smooth, Vascular/metabolism ; Pedigree ; Pulmonary Artery/metabolism ; Signal Transduction ; Exome Sequencing ; Young Adult
Czasopismo naukowe
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