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
Date Published2010
KeywordsBase Pairing, Databases, Nucleic Acid, Exons, Gene Library, Haplotypes, Humans, Polymorphism, Single Nucleotide, Reproducibility of Results, Sequence Alignment, Sequence Analysis, DNA, Solutions

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.

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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