WGSA: an annotation pipeline for human genome sequencing studies.

TitleWGSA: an annotation pipeline for human genome sequencing studies.
Publication TypeJournal Article
Year of Publication2016
AuthorsLiu, X, White, S, Peng, B, Johnson, AD, Brody, JA, Li, AH, Huang, Z, Carroll, A, Wei, P, Gibbs, RA, Klein, RJ, Boerwinkle, E
JournalJ Med Genet
Volume53
Issue2
Pagination111-2
Date Published2016 Feb
ISSN1468-6244
KeywordsCloud Computing, Genome, Human, Humans, Molecular Sequence Annotation, Sequence Analysis, DNA, Software
DOI10.1136/jmedgenet-2015-103423
Alternate JournalJ Med Genet
PubMed ID26395054
PubMed Central IDPMC5124490
Grant ListRC2 HL102419 / HL / NHLBI NIH HHS / United States
P30 CA016672 / CA / NCI NIH HHS / United States
5RC2HL102419 / HL / NHLBI NIH HHS / United States
U01 HG007033 / HG / NHGRI NIH HHS / United States
U54HG003273 / HG / NHGRI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States

Similar Publications

Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MYin, Mehaffey MG, et al.. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024;4(7):100590.
Ji Y, Zhao J, Gong J, Sedlazeck FJ, Fan S. Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations. Mol Genet Genomics. 2024;299(1):65.
Wang J, Wang M, Moshiri A, Harris RA, Raveendran M, Nguyen T, et al.. Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models. Nat Commun. 2024;15(1):5658.