@article {411,
	title = {denovo-db: a compendium of human de novo variants.},
	journal = {Nucleic Acids Res},
	volume = {45},
	year = {2017},
	month = {2017 01 04},
	pages = {D804-D811},
	abstract = {<p>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 facilitate better usage of published data, provide standardization of annotation, and improve accessibility, we created denovo-db (http://denovo-db.gs.washington.edu), a database for human de novo variants. As of July 2016, denovo-db contained 40 different studies and 32,991 de novo variants from 23,098 trios. Database features include basic variant information (chromosome location, change, type); detailed annotation at the transcript and protein levels; severity scores; frequency; validation status; and, most importantly, the phenotype of the individual with the variant. We included a feature on our browsable website to download any query result, including a downloadable file of the full database with additional variant details. denovo-db provides necessary information for researchers to compare their data to other individuals with the same phenotype and also to controls allowing for a better understanding of the biology of de novo variants and their contribution to disease.</p>},
	keywords = {Computational Biology, Databases, Nucleic Acid, Genetic Association Studies, Genetic Variation, Germ-Line Mutation, Humans, Molecular Sequence Annotation, Polymorphism, Single Nucleotide, Web Browser},
	issn = {1362-4962},
	doi = {10.1093/nar/gkw865},
	author = {Turner, Tychele N and Yi, Qian and Krumm, Niklas and Huddleston, John and Hoekzema, Kendra and F Stessman, Holly A and Doebley, Anna-Lisa and Bernier, Raphael A and Nickerson, Deborah A and Eichler, Evan E}
}
