TY - JOUR
T1 - NAR Breakthrough Article denovo-db
T2 - A compendium of human de novo variants
AU - Turner, Tychele N.
AU - Yi, Qian
AU - Krumm, Niklas
AU - Huddleston, John
AU - Hoekzema, Kendra
AU - Stessman, Holly A.F.
AU - Doebley, Anna Lisa
AU - Bernier, Raphael A.
AU - Nickerson, Deborah A.
AU - Eichler, Evan E.
N1 - Publisher Copyright:
© 2016 The Author(s).
PY - 2017/1/1
Y1 - 2017/1/1
N2 - 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://denovodb.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.
AB - 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://denovodb.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.
UR - http://www.scopus.com/inward/record.url?scp=85016159397&partnerID=8YFLogxK
U2 - 10.1093/nar/gkw865
DO - 10.1093/nar/gkw865
M3 - Article
C2 - 27907889
AN - SCOPUS:85016159397
SN - 0305-1048
VL - 45
SP - D804-D811
JO - Nucleic acids research
JF - Nucleic acids research
IS - D1
ER -