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A map of constrained coding regions in the human genome

Deep catalogs of genetic variation from thousands of humans enable the detection of intraspecies constraint by identifying coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint variability wi...

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Publicado en:Nat Genet
Autores principales: Havrilla, James M., Pedersen, Brent S., Layer, Ryan M., Quinlan, Aaron R.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6589356/
https://ncbi.nlm.nih.gov/pubmed/30531870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-018-0294-6
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