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1. www.nature.com › articles › s41576/021/00376-2The origin of human mutation in light of genomic data

   www.nature.com › articles › s41576/021/00376-2

   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.

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2. www.nature.com › articles › s41576/024/00709-xGenetic variation across and within individuals - Nature

   www.nature.com › articles › s41576/024/00709-x

   28 mar 2024 · 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...

3. www.nature.com › articles › s41586/021/03822-7The mutational landscape of human somatic and germline cells

   www.nature.com › articles › s41586/021/03822-7

   25 sie 2021 · Over the course of an individual’s lifetime, normal human cells accumulate mutations1. Here we compare the mutational landscape in 29 cell types from the soma and germline using multiple samples...

4. www.science.org › doi › 10The origins, determinants, and consequences of human mutations

   www.science.org › doi › 10

   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.

5. academic.oup.com › genetics › articleMutation and Human Exceptionalism: Our Future Genetic Load

   academic.oup.com › genetics › article

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   2 mar 2016 · Although somatic mutations are nonheritable, there is a potentially significant evolutionary link with the germline mutation rate because the DNA replication and repair machinery is shared between both types of cells.

6. pmc.ncbi.nlm.nih.gov › articles › PMC6731245Similarities and differences in patterns of germline mutation...

   pmc.ncbi.nlm.nih.gov › articles › PMC6731245

   In humans, most germline mutations are paternal in origin and numbers of mutations per offspring increase with paternal and maternal age. Here we estimate germline mutation rates and spectra in six multi-sibling mouse pedigrees and compare to three multi-sibling human pedigrees.

7. www.cell.com › trends › geneticsDe Novo Mutations Reflect Development and Aging of the Human...

   www.cell.com › trends › genetics

   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.