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Tytuł :
Sensitive alignment using paralogous sequence variants improves long-read mapping and variant calling in segmental duplications.
Autorzy :
Prodanov T; Bioinformatics and Systems Biology Graduate Program, University of California, San Diego, La Jolla, CA 92093, USA.
Bansal V; Department of Pediatrics, School of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Nov 04; Vol. 48 (19), pp. e114.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genome, Human*
Segmental Duplications, Genomic*
Software*
High-Throughput Nucleotide Sequencing/*methods
Sequence Analysis, DNA/*methods
Algorithms ; Databases, Genetic ; Datasets as Topic ; Humans
Czasopismo naukowe
Tytuł :
Use Chou's 5-steps rule to identify DNase I hypersensitive sites via dinucleotide property matrix and extreme gradient boosting.
Autorzy :
Zhang S; School of Mathematics and Statistics, Xidian University, Xi'an, 710071, People's Republic of China. .
Xue T; School of Mathematics and Statistics, Xidian University, Xi'an, 710071, People's Republic of China.
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Źródło :
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2020 Nov; Vol. 295 (6), pp. 1431-1442. Date of Electronic Publication: 2020 Jul 19.
Typ publikacji :
Journal Article
MeSH Terms :
Algorithms*
Genome, Human*
Chromatin/*metabolism
Deoxyribonuclease I/*metabolism
Dinucleotide Repeats/*genetics
Chromatin/genetics ; Deoxyribonuclease I/chemistry ; Humans ; Regulatory Sequences, Nucleic Acid
Czasopismo naukowe
Tytuł :
Reanalysis and integration of public microarray datasets reveals novel host genes modulated in leprosy.
Autorzy :
Leal-Calvo T; Laboratório de Hanseníase, Instituto Oswaldo Cruz, FIOCRUZ, Rio De Janeiro, 21040-360, Brazil.
Moraes MO; Laboratório de Hanseníase, Instituto Oswaldo Cruz, FIOCRUZ, Rio De Janeiro, 21040-360, Brazil. .
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Źródło :
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2020 Nov; Vol. 295 (6), pp. 1355-1368. Date of Electronic Publication: 2020 Jul 13.
Typ publikacji :
Journal Article
MeSH Terms :
Algorithms*
Genome, Human*
Biomarkers/*analysis
Computational Biology/*methods
Leprosy/*genetics
Datasets as Topic ; Gene Expression Profiling ; Humans ; Leprosy/pathology ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Towards a reference genome that captures global genetic diversity.
Autorzy :
Wong KHY; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, 94158, USA.
Ma W; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, 94158, USA.
Wei CY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Yeh EC; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Lin WJ; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Wang EHF; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Su JP; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Hsieh FJ; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Kao HJ; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Chen HH; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Chow SK; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, 94158, USA.
Young E; School of Biomedical Engineering, Drexel University, Philadelphia, PA, 19104, USA.
Chu C; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA.
Poon A; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA.
Yang CF; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Lin DS; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.; Department of Medicine, Mackay Medical College, New Taipei, Taiwan.
Hu YF; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.; Department of Internal Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
Wu JY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
Lee NC; Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Hwu WL; Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Boffelli D; Children's Hospital Oakland Research Institute, Oakland, CA, 94609, USA.
Martin D; Children's Hospital Oakland Research Institute, Oakland, CA, 94609, USA.
Xiao M; School of Biomedical Engineering, Drexel University, Philadelphia, PA, 19104, USA.; Institute of Molecular Medicine and Infectious Disease in the School of Medicine, Drexel University, Philadelphia, PA, 19102, USA.
Kwok PY; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, 94158, USA. .; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. .; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, 94143, USA. .; Department of Dermatology, University of California, San Francisco, San Francisco, CA, 94115, USA. .
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Źródło :
Nature communications [Nat Commun] 2020 Oct 30; Vol. 11 (1), pp. 5482. Date of Electronic Publication: 2020 Oct 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Variation*
Genome, Human*
Population/*genetics
Chromosome Mapping ; Computational Biology ; Gene Expression ; Genomics ; Genotyping Techniques ; Humans ; Molecular Sequence Annotation ; RNA-Seq ; Sequence Analysis, DNA ; Transcriptome ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Whole genome copy number analysis in search of new prognostic biomarkers in first line treatment of mantle cell lymphoma. A study by the LYSA group.
Autorzy :
Le Bris Y; Hematology Biology Department, Nantes University Hospital, Nantes, France.; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.
Magrangeas F; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.
Moreau A; Pathology Department Nantes University Hospital, now in Centre Hospitalier Départemental de Vendée, La Roche sur Yon, France.
Chiron D; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.
Guérin-Charbonnel C; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.; Institut de Cancérologie de l'Ouest, U892, Saint-Herblain, France.
Theisen O; Hematology Biology Department, Nantes University Hospital, Nantes, France.
Pichon O; Genetic Department, Nantes University Hospital, Nantes, France.
Canioni D; Pathology Department, Necker University Hospital, Paris, France.
Burroni B; Pathology Department, Cochin University Hospital, Paris, France.
Maisonneuve H; Hematology Clinic, Centre Hospitalier Départemental de Vendée, La Roche sur Yon, France.
Thieblemont C; Clinical Hematology Department, Saint Louis University Hospital, Paris, France.
Oberic L; Clinical Hematology Department, IUCT Oncopole, Toulouse University Hospital, Toulouse, France.
Gyan E; Clinical Hematology Department, Tours University Hospital, Tours, France.
Pellat-Deceunynck C; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.
Hermine O; Clinical Hematology Department, Necker University Hospital, Paris, France.
Delfau-Larue MH; Immunology Department, Mondor University Hospital, Creteil, France.
Tessoulin B; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.; Clinical Hematology Department, Nantes University Hospital, Nantes, France.
Béné MC; Hematology Biology Department, Nantes University Hospital, Nantes, France.; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.
Minvielle S; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.
Le Gouill S; CRCINA, INSERM, CNRS, Université d'Angers, Université de Nantes, Nantes, France.; Clinical Hematology Department, Nantes University Hospital, Nantes, France.
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Źródło :
Hematological oncology [Hematol Oncol] 2020 Oct; Vol. 38 (4), pp. 446-455. Date of Electronic Publication: 2020 Jun 25.
Typ publikacji :
Clinical Trial, Phase III; Journal Article; Randomized Controlled Trial
MeSH Terms :
DNA Copy Number Variations*
Genome, Human*
Antineoplastic Combined Chemotherapy Protocols/*therapeutic use
Biomarkers, Tumor/*genetics
Lymphoma, Mantle-Cell/*pathology
Neoplasm Recurrence, Local/*pathology
Adult ; Aged ; Combined Modality Therapy ; Cyclin D1/genetics ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Female ; Follow-Up Studies ; Humans ; Lymphoma, Mantle-Cell/genetics ; Lymphoma, Mantle-Cell/therapy ; Male ; Middle Aged ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/therapy ; Prognosis ; Prospective Studies ; Stem Cell Transplantation ; Survival Rate ; Translocation, Genetic ; Tumor Suppressor Protein p53/genetics ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
The Human Gene Mutation Database (HGMD ): optimizing its use in a clinical diagnostic or research setting.
Autorzy :
Stenson PD; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK. .
Mort M; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Ball EV; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Chapman M; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Evans K; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Azevedo L; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.; i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.
Hayden M; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Heywood S; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Millar DS; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Phillips AD; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
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Źródło :
Human genetics [Hum Genet] 2020 Oct; Vol. 139 (10), pp. 1197-1207. Date of Electronic Publication: 2020 Jun 28.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Databases, Genetic*
Genome, Human*
Germ-Line Mutation*
Polymorphism, Genetic*
Bibliometrics ; Biomedical Research/methods ; Genetic Predisposition to Disease ; Humans ; Public-Private Sector Partnerships
Czasopismo naukowe
Tytuł :
Genopo: a nanopore sequencing analysis toolkit for portable Android devices.
Autorzy :
Samarakoon H; Department of Computer Engineering, University of Peradeniya, Peradeniya, Sri Lanka.
Punchihewa S; Department of Computer Engineering, University of Peradeniya, Peradeniya, Sri Lanka.
Senanayake A; Department of Computer Engineering, University of Peradeniya, Peradeniya, Sri Lanka.
Hammond JM; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Stevanovski I; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Ferguson JM; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Ragel R; Department of Computer Engineering, University of Peradeniya, Peradeniya, Sri Lanka.
Gamaarachchi H; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. .; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia. .
Deveson IW; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. .; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. .
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Źródło :
Communications biology [Commun Biol] 2020 Sep 29; Vol. 3 (1), pp. 538. Date of Electronic Publication: 2020 Sep 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Genome, Viral*
Betacoronavirus/*genetics
Computational Biology/*methods
High-Throughput Nucleotide Sequencing/*methods
Whole Genome Sequencing/*methods
Betacoronavirus/pathogenicity ; Cell Phone/instrumentation ; Computational Biology/instrumentation ; Coronavirus Infections/diagnosis ; Coronavirus Infections/virology ; DNA Methylation ; High-Throughput Nucleotide Sequencing/instrumentation ; Humans ; Nanopores ; Pandemics ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/virology ; Whole Genome Sequencing/instrumentation
SCR Disease Name :
COVID-19
Czasopismo naukowe
Tytuł :
Characteristics of genomic alterations in Chinese cholangiocarcinoma patients.
Autorzy :
Jiang G; The Department of Hepatobiliary and Pancreatic Surgery, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, Zhejiang, P.R. China.
Zhang W; The Department of Hepatobiliary and Pancreatic Surgery, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, Zhejiang, P.R. China.
Wang T; The Department of Hepatobiliary and Pancreatic Surgery, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, Zhejiang, P.R. China.
Ding S; The Department of Hepatobiliary and Pancreatic Surgery, Shulan (Hangzhou) Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College, Hangzhou, Zhejiang, P.R. China.
Shi X; OrigiMed Co. Ltd, Shanghai, P.R. China.
Zhang S; OrigiMed Co. Ltd, Shanghai, P.R. China.
Shi W; OrigiMed Co. Ltd, Shanghai, P.R. China.
Liu A; OrigiMed Co. Ltd, Shanghai, P.R. China.
Zheng S; The Department of Hepatobiliary and Pancreatic Surgery, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, P.R. China.
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Źródło :
Japanese journal of clinical oncology [Jpn J Clin Oncol] 2020 Sep 28; Vol. 50 (10), pp. 1117-1125.
Typ publikacji :
Journal Article
MeSH Terms :
Genome, Human*
Asian Continental Ancestry Group/*genetics
Cholangiocarcinoma/*genetics
Mutation/*genetics
Adult ; Age Factors ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation Rate ; Tumor Suppressor Proteins/genetics ; Ubiquitin Thiolesterase/genetics
Czasopismo naukowe
Tytuł :
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences.
Autorzy :
Svensson D; Department of Chemistry, Computational Life Science Cluster, Umeå University, Umeå, Sweden.
Rentoft M; Department of Medical Biochemistry and Biophysics, Umeå University, Umeå, Sweden.
Dahlin AM; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.
Lundholm E; Centre for Demography and Ageing, Umeå University, Umeå, Sweden.
Olason PI; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
Sjödin A; Department of Chemistry, Computational Life Science Cluster, Umeå University, Umeå, Sweden.; Division of CBRN Security and Defence, FOI-Swedish Defence Research Agency, Umeå, Sweden.
Nylander C; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.
Melin BS; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.
Trygg J; Department of Chemistry, Computational Life Science Cluster, Umeå University, Umeå, Sweden.
Johansson E; Department of Medical Biochemistry and Biophysics, Umeå University, Umeå, Sweden.
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Źródło :
PloS one [PLoS One] 2020 Sep 11; Vol. 15 (9), pp. e0237721. Date of Electronic Publication: 2020 Sep 11 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human*
Polymorphism, Genetic*
Population/*genetics
Aged ; Aged, 80 and over ; Databases, Genetic ; Female ; Humans ; Male ; Middle Aged ; Sweden ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Large scale in silico characterization of repeat expansion variation in human genomes.
Autorzy :
Fazal S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Cintra VP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Bis-Brewer DM; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Dolzhenko E; Illumina Inc., San Diego, CA, USA.
Eberle MA; Illumina Inc., San Diego, CA, USA.
Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. .
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Źródło :
Scientific data [Sci Data] 2020 Sep 08; Vol. 7 (1), pp. 294. Date of Electronic Publication: 2020 Sep 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genome, Human*
Tandem Repeat Sequences*
Alu Elements ; Datasets as Topic ; Humans ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
A method for scoring the cell type-specific impacts of noncoding variants in personal genomes.
Autorzy :
Li W; Department of Statistics, Department of Biomedical Data Science, Bio-X Program, Stanford University, Stanford, CA 94305.; Ministry of Education Key Laboratory of Bioinformatics, Research Department of Bioinformatics at the Beijing National Research Center for Information Science and Technology, Center for Synthetic and Systems Biology, Department of Automation, Tsinghua University, Beijing 100084, China.
Duren Z; Department of Statistics, Department of Biomedical Data Science, Bio-X Program, Stanford University, Stanford, CA 94305.
Jiang R; Ministry of Education Key Laboratory of Bioinformatics, Research Department of Bioinformatics at the Beijing National Research Center for Information Science and Technology, Center for Synthetic and Systems Biology, Department of Automation, Tsinghua University, Beijing 100084, China .
Wong WH; Department of Statistics, Department of Biomedical Data Science, Bio-X Program, Stanford University, Stanford, CA 94305; .
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Sep 01; Vol. 117 (35), pp. 21364-21372. Date of Electronic Publication: 2020 Aug 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms :
Genetic Techniques*
Genetic Variation*
Genome, Human*
Models, Genetic*
Regulatory Elements, Transcriptional*
Body Height/genetics ; Gene Expression Profiling ; Genome-Wide Association Study ; Humans ; Quantitative Trait Loci ; Software ; Transcription Factors/metabolism
Czasopismo naukowe
Tytuł :
Societal considerations in host genome testing for COVID-19.
Autorzy :
Milne R; Society and Ethics Research Group, Wellcome Genome Campus, Hinxton, UK. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Sep; Vol. 22 (9), pp. 1464-1466. Date of Electronic Publication: 2020 Jun 08.
Typ publikacji :
Letter
MeSH Terms :
Betacoronavirus*
Genetic Predisposition to Disease*
Genome, Human*
Coronavirus Infections/*genetics
Coronavirus Infections/*virology
Host-Pathogen Interactions/*genetics
Pneumonia, Viral/*genetics
Pneumonia, Viral/*virology
Coronavirus Infections/diagnosis ; Genetic Testing ; Humans ; Pandemics ; Pneumonia, Viral/diagnosis
SCR Disease Name :
COVID-19
Opinia redakcyjna
Tytuł :
Endogenization and excision of human herpesvirus 6 in human genomes.
Autorzy :
Liu X; Genome Immunobiology RIKEN Hakubi Research Team, RIKEN Cluster for Pioneering Research and RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kosugi S; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Koide R; Genome Immunobiology RIKEN Hakubi Research Team, RIKEN Cluster for Pioneering Research and RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kawamura Y; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Ito J; Division of Systems Virology, Department of Infectious Disease Control, International Research Center for Infectious Diseases, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Miura H; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Matoba N; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Matsuzaki M; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.
Fujita M; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kamada AJ; Genome Immunobiology RIKEN Hakubi Research Team, RIKEN Cluster for Pioneering Research and RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Nakagawa H; Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Tamiya G; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.
Matsuda K; Laboratory of Molecular Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.; Laboratory for Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Murakami Y; Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Kubo M; RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Aswad A; Institut für Virologie, Freie Universität Berlin, Berlin, Germany.
Sato K; Division of Systems Virology, Department of Infectious Disease Control, International Research Center for Infectious Diseases, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Momozawa Y; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Ohashi J; Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
Terao C; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Yoshikawa T; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan.
Parrish NF; Genome Immunobiology RIKEN Hakubi Research Team, RIKEN Cluster for Pioneering Research and RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kamatani Y; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences, The University of Tokyo, Japan.
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Źródło :
PLoS genetics [PLoS Genet] 2020 Aug 10; Vol. 16 (8), pp. e1008915. Date of Electronic Publication: 2020 Aug 10 (Print Publication: 2020).
Typ publikacji :
Journal Article
MeSH Terms :
Genome, Human*
Virus Integration*
Herpesvirus 6, Human/*genetics
Asian Continental Ancestry Group/genetics ; Chromosomes, Human, Pair 22/genetics ; Evolution, Molecular ; Germ-Line Mutation ; Humans ; Polymorphism, Single Nucleotide ; RNA, Small Interfering/genetics
Czasopismo naukowe
Tytuł :
High-risk and intermediate-high-risk results from the ThyroSeq v2 and v3 thyroid genomic classifier are associated with neoplasia: Independent performance assessment at an academic institution.
Autorzy :
Jug R; Department of Pathology, Duke University Medical Center, Durham, North Carolina.
Foo WC; Department of Pathology, Duke University Medical Center, Durham, North Carolina.
Jones C; Department of Pathology, Duke University Medical Center, Durham, North Carolina.
Ahmadi S; Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Boston, Massachusetts.
Jiang XS; Department of Pathology, Duke University Medical Center, Durham, North Carolina.
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Źródło :
Cancer cytopathology [Cancer Cytopathol] 2020 Aug; Vol. 128 (8), pp. 563-569. Date of Electronic Publication: 2020 Apr 27.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Genome, Human*
Mutation*
Academic Medical Centers/*organization & administration
Thyroid Neoplasms/*genetics
Aged ; Female ; Humans ; Male ; Middle Aged ; Sensitivity and Specificity ; Thyroid Neoplasms/pathology
Czasopismo naukowe
Tytuł :
3D mapping and accelerated super-resolution imaging of the human genome using in situ sequencing.
Autorzy :
Nguyen HQ; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Chattoraj S; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Castillo D; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Nguyen SC; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Nir G; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Wyss Institute, Harvard Medical School, Boston, MA, USA.
Lioutas A; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Hershberg EA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Martins NMC; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Reginato PL; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Wyss Institute, Harvard Medical School, Boston, MA, USA.; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA.
Hannan M; Department of Genetics, Harvard Medical School, Boston, MA, USA.
Beliveau BJ; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Church GM; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Wyss Institute, Harvard Medical School, Boston, MA, USA.
Daugharthy ER; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Wyss Institute, Harvard Medical School, Boston, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; ReadCoor, Cambridge, MA, USA.; ReadCoor, Cambridge, MA, USA.
Marti-Renom MA; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. .; CRG, BIST, Barcelona, Spain. .; Pompeu Fabra University, Barcelona, Spain. .; ICREA, Barcelona, Spain. .
Wu CT; Department of Genetics, Harvard Medical School, Boston, MA, USA. .; Wyss Institute, Harvard Medical School, Boston, MA, USA. .
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Źródło :
Nature methods [Nat Methods] 2020 Aug; Vol. 17 (8), pp. 822-832. Date of Electronic Publication: 2020 Jul 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Genome, Human*
Chromosome Painting/*methods
Chromosomes/*chemistry
Chromosomes/*genetics
Humans ; Oligonucleotide Array Sequence Analysis/methods ; Oligonucleotide Probes ; Physical Chromosome Mapping
Czasopismo naukowe
Tytuł :
MutEnricher: a flexible toolset for somatic mutation enrichment analysis of tumor whole genomes.
Autorzy :
Soltis AR; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. .; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA. .
Dalgard CL; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Pollard HB; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Wilkerson MD; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. .; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA. .; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA. .
Pokaż więcej
Źródło :
BMC bioinformatics [BMC Bioinformatics] 2020 Jul 31; Vol. 21 (1), pp. 338. Date of Electronic Publication: 2020 Jul 31.
Typ publikacji :
Journal Article
MeSH Terms :
Genome, Human*
Software*
Mutation/*genetics
Neoplasms/*genetics
Humans ; Promoter Regions, Genetic/genetics ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
[SLFN14 inhibits LINE-1 transposition activity].
Autorzy :
Mao Y; Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100050, China.
Ding JW; Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100050, China.
Chen MS; Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100050, China.
Cen S; Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100050, China.
Li XY; Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100050, China.
Pokaż więcej
Źródło :
Yi chuan = Hereditas [Yi Chuan] 2020 Jul 20; Vol. 42 (7), pp. 669-679.
Typ publikacji :
Journal Article
MeSH Terms :
Endoribonucleases*/physiology
Genome, Human*
Long Interspersed Nucleotide Elements*/genetics
Genomic Instability ; Humans ; RNA, Messenger ; Reverse Transcription
Czasopismo naukowe
Tytuł :
SpectralTAD: an R package for defining a hierarchy of topologically associated domains using spectral clustering.
Autorzy :
Cresswell KG; Department of Biostatistics, Virginia Commonwealth University, Richmond, VA, USA.
Stansfield JC; Department of Biostatistics, Virginia Commonwealth University, Richmond, VA, USA.
Dozmorov MG; Department of Biostatistics, Virginia Commonwealth University, Richmond, VA, USA. .
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Źródło :
BMC bioinformatics [BMC Bioinformatics] 2020 Jul 20; Vol. 21 (1), pp. 319. Date of Electronic Publication: 2020 Jul 20.
Typ publikacji :
Journal Article
MeSH Terms :
Algorithms*
Gene Expression Regulation*
Genome, Human*
Software*
Chromatin/*genetics
Computational Biology/*methods
Cluster Analysis ; Humans ; Models, Genetic
Czasopismo naukowe
Tytuł :
Enhancer prediction in the human genome by probabilistic modelling of the chromatin feature patterns.
Autorzy :
Osmala M; Department of Computer Science, Aalto University, Konemiehentie 2, Espoo, 02150, Finland. .
Lähdesmäki H; Department of Computer Science, Aalto University, Konemiehentie 2, Espoo, 02150, Finland.
Pokaż więcej
Źródło :
BMC bioinformatics [BMC Bioinformatics] 2020 Jul 20; Vol. 21 (1), pp. 317. Date of Electronic Publication: 2020 Jul 20.
Typ publikacji :
Journal Article
MeSH Terms :
Enhancer Elements, Genetic*
Genome, Human*
Models, Statistical*
Chromatin/*genetics
Genomics/*methods
Histones/*genetics
Transcription Factors/*metabolism
Chromatin/chemistry ; Chromatin/metabolism ; Histone Code ; Histones/chemistry ; Histones/metabolism ; Humans ; Protein Processing, Post-Translational
Czasopismo naukowe

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