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Interpreting short tandem repeat variations in humans using mutational constraint

Identifying regions of the genome that are depleted of mutations can reveal potentially deleterious variants. Short tandem repeats (STRs), also known as microsatellites, are among the largest contributors of de novo mutations in humans. However, per-locus studies of STR mutations have been limited t...

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Bibliografiske detaljer
Udgivet i:Nat Genet
Main Authors: Gymrek, Melissa, Willems, Thomas, Reich, David, Erlich, Yaniv
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5679271/
https://ncbi.nlm.nih.gov/pubmed/28892063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3952
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