Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

A detailed understanding of the genome-wide variability of single-nucleotide germline mutation rates is essential to studying human genome evolution. Here, we use ~36 million singleton variants from 3560 whole-genome sequences to infer fine-scale patterns of mutation rate heterogeneity. Mutability i...

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Publicado no:Nat Commun
Main Authors: Carlson, Jedidiah, Locke, Adam E., Flickinger, Matthew, Zawistowski, Matthew, Levy, Shawn, Myers, Richard M., Boehnke, Michael, Kang, Hyun Min, Scott, Laura J., Li, Jun Z., Zöllner, Sebastian
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6138700/
https://ncbi.nlm.nih.gov/pubmed/30218074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-05936-5
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