دورية أكاديمية
أعرض في EDS

Genetic variation across and within individuals.

التفاصيل البيبلوغرافية
العنوان: Genetic variation across and within individuals.
المؤلفون: Yu Z; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Coorens THH; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Uddin MM; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ardlie KG; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lennon N; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Natarajan P; Broad Institute of MIT and Harvard, Cambridge, MA, USA. pnatarajan@mgh.harvard.edu.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. pnatarajan@mgh.harvard.edu.; Department of Medicine, Harvard Medical School, Boston, MA, USA. pnatarajan@mgh.harvard.edu.
المصدر: Nature reviews. Genetics [Nat Rev Genet] 2024 Aug; Vol. 25 (8), pp. 548-562. Date of Electronic Publication: 2024 Mar 28.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0064 (Electronic) Linking ISSN: 14710056 NLM ISO Abbreviation: Nat Rev Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London, UK : Nature Pub. Group, [2000-
مواضيع طبية MeSH: Genetic Variation* , Germ-Line Mutation*, Humans ; Mutation ; Genetic Predisposition to Disease
مستخلص: Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present from conception, but they vary between individuals and accumulate over generations. By contrast, somatic mutations accumulate throughout life in a mosaic manner within an individual due to intrinsic and extrinsic sources of mutations and selection pressures acting on cells. Recent advancements, such as improved detection methods and increased resources for association studies, have drastically expanded our ability to investigate germline and somatic genetic variation and compare underlying mutational processes. A better understanding of the similarities and differences in the types, rates and patterns of germline and somatic variants, as well as their interplay, will help elucidate the mechanisms underlying their distinct yet interlinked roles in human health and biology.
(© 2024. Springer Nature Limited.)
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معلومات مُعتمدة: K99 HG012956 United States HG NHGRI NIH HHS
تواريخ الأحداث: Date Created: 20240329 Date Completed: 20240718 Latest Revision: 20240718
رمز التحديث: 20240719
DOI: 10.1038/s41576-024-00709-x
PMID: 38548833
قاعدة البيانات: MEDLINE
الوصف
تدمد:1471-0064
DOI:10.1038/s41576-024-00709-x