Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Y
PROVIDER: S-EPMC4489280 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Zhang Yuanwei Y Yu Zhenhua Z Ban Rongjun R Zhang Huan H Iqbal Furhan F Zhao Aiwu A Li Ao A Shi Qinghua Q
Nucleic acids research 20150526 W1
With the decrease in costs, whole-exome sequencing (WES) has become a very popular and powerful tool for the identification of genetic variants underlying human diseases. However, integrated tools to precisely detect and systematically annotate copy number variations (CNVs) from WES data are still in great demand. Here, we present an online tool, DeAnnCNV (Detection and Annotation of Copy Number Variations from WES data), to meet the current demands of WES users. Upon submitting the file generat ...[more]