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Hum Mutat. 2012 Jun;33(6):E2341-55. doi: 10.1002/humu.22096. Epub 2012 Apr 19.

NGS catalog: A database of next generation sequencing studies in humans.

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  • 1Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.

Abstract

Next generation sequencing (NGS) technologies have been rapidly applied in biomedical and biological research since its advent only a few years ago, and they are expected to advance at an unprecedented pace in the following years. To provide the research community with a comprehensive NGS resource, we have developed the database Next Generation Sequencing Catalog (NGS Catalog, http://bioinfo.mc.vanderbilt.edu/NGS/index.html), a continually updated database that collects, curates and manages available human NGS data obtained from published literature. NGS Catalog deposits publication information of NGS studies and their mutation characteristics (SNVs, small insertions/deletions, copy number variations, and structural variants), as well as mutated genes and gene fusions detected by NGS. Other functions include user data upload, NGS general analysis pipelines, and NGS software. NGS Catalog is particularly useful for investigators who are new to NGS but would like to take advantage of these powerful technologies for their own research. Finally, based on the data deposited in NGS Catalog, we summarized features and findings from whole exome sequencing, whole genome sequencing, and transcriptome sequencing studies for human diseases or traits.

© 2012 Wiley Periodicals, Inc.

PMID:
22517761
[PubMed - indexed for MEDLINE]
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