Article
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Proceedings of the National Academy of Sciences of the United States of America - 4 Feb 2020
Kessler Michael D, Loesch Douglas P, Perry James A, Heard-Costa Nancy L, Taliun Daniel, Cade Brian E, Wang Heming, Daya Michelle, Ziniti John, Datta Soma, Celedón Juan C, Soto-Quiros Manuel E, Avila Lydiana, Weiss Scott T, Barnes Kathleen, Redline Susan S, Vasan Ramachandran S, Johnson Andrew D, Mathias Rasika A, Hernandez Ryan, Wilson James G, Nickerson Deborah A, Abecasis Goncalo, Browning Sharon R, Zöllner Sebastian, O'Connell Jeffrey R, Mitchell Braxton D, O'Connor Timothy D
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 called 93,325 single-nucleotide DNMs across 1,465 trios...
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