Article

De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population

2019-02-19

Abstract excerpt

de novo Mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utilizing high-coverage whole genome sequencing data as part of the Trans-Omics for Precision Medicine (TOPMed) program, we directly estimate and analyze DNM counts, rates, and spectra...

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Literature Corpus work: 07b83a4a-e3c6-5366-a39d-54b03977b6de
DOI: 10.1101/553214

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