denovo-db: a compendium of human de novo variants
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DOI: 10.1093/nar/gkw865
Abstract: 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,… read more here.
Keywords: human novo; denovo compendium; compendium human; novo variants ... See more keywords