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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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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Gymrek, Melissa, Willems, Thomas, Reich, David, Erlich, Yaniv
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha: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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