denovo-db: a compendium of human de novo variants

Whole-exome and whole-genome sequencing have facilitated the large-scale discovery of de novo variants in human disease. To date, most de novo discovery through next-generation sequencing focused on congenital heart disease and neurodevelopmental disorders (NDDs). Currently, de novo variants are one...

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Détails bibliographiques
Publié dans:Nucleic Acids Res
Auteurs principaux: Turner, Tychele N., Yi, Qian, Krumm, Niklas, Huddleston, John, Hoekzema, Kendra, F. Stessman, Holly A., Doebley, Anna-Lisa, Bernier, Raphael A., Nickerson, Deborah A., Eichler, Evan E.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2017
Sujets:
Database Issue
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5210614/
https://ncbi.nlm.nih.gov/pubmed/27907889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkw865
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