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Article

denovo-db: a compendium of human de novo variants.

Nucleic acids research - 4 Jan 2017

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

Abstract excerpt

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 of the most significant risk factors for NDDs with a substantial overlap of genes involved in more than one NDD. To...

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Identifiers

PMID: 27907889
DOI: 10.1093/nar/gkw865
PMCID: PMC5210614

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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