Whole exome capture in solution with 3 Gbp of data.

TitleWhole exome capture in solution with 3 Gbp of data.
Publication TypeJournal Article
Year of Publication2010
AuthorsBainbridge, MN, Wang, M, Burgess, DL, Kovar, C, Rodesch, MJ, D'Ascenzo, M, Kitzman, J, Wu, Y-Q, Newsham, I, Richmond, TA, Jeddeloh, JA, Muzny, DM, Albert, TJ, Gibbs, RA
JournalGenome Biol
Volume11
Issue6
PaginationR62
Date Published2010
ISSN1474-760X
KeywordsBase Pairing, Databases, Nucleic Acid, Exons, Gene Library, Haplotypes, Humans, Polymorphism, Single Nucleotide, Reproducibility of Results, Sequence Alignment, Sequence Analysis, DNA, Solutions
Abstract

We have developed a solution-based method for targeted DNA capture-sequencing that is directed to the complete human exome. Using this approach allows the discovery of greater than 95% of all expected heterozygous singe base variants, requires as little as 3 Gbp of raw sequence data and constitutes an effective tool for identifying rare coding alleles in large scale genomic studies.
DOI10.1186/gb-2010-11-6-r62
Alternate JournalGenome Biol
PubMed ID20565776
PubMed Central IDPMC2911110
Grant ListU54 HG003273 / HG / NHGRI NIH HHS / United States
U54HG003273 / HG / NHGRI NIH HHS / United States

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