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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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Bibliografiset tiedot
Julkaisussa:Nat Genet
Päätekijät: Gymrek, Melissa, Willems, Thomas, Reich, David, Erlich, Yaniv
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2017
Aiheet:
Linkit: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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