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Germline mutation is distinct from somatic mutation. Germline mutations can be caused by a variety of endogenous (internal) and exogenous (external) factors, and can occur throughout zygote development. [3]
25 wrz 2015 · Germline mutations are the principal cause of heritable disease and the ultimate source of evolutionary change. Similarly, somatic mutations are the primary cause of cancer and may contribute to the burden of human disease more broadly than previously appreciated.
23 cze 2021 · Here, we review statistical patterns in de novo germline mutations from parent–offspring trio sequencing and in human genetic variation data from large-scale genome sequencing projects.
14 gru 2015 · Germline mutations are a driving force behind genome evolution and genetic disease. We investigated genome-wide mutation rates and spectra in multi-sibling families.
28 mar 2024 · This study, based on whole-genome data of over 20,000 families, identifies accelerated rates of de novo germline mutations and determines the likely causes of this hypermutation.
Germline mutations are the principal cause of heritable disease and the ultimate source of evolutionary change. Similarly, somatic mutations are the primary cause of cancer and may contribute to the burden of human disease more broadly than previously appreciated.
11 paź 2019 · Human germline de novo mutations (DNMs) are both a driver of evolution and an important cause of genetic diseases. In the past few years, whole-genome sequencing (WGS) of parent–offspring trios has facilitated the large-scale detection and study of human DNMs, which has led to exciting discoveries.
