Title | Whole exome capture in solution with 3 Gbp of data. |
Publication Type | Journal Article |
Year of Publication | 2010 |
Authors | Bainbridge, 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 |
Journal | Genome Biol |
Volume | 11 |
Issue | 6 |
Pagination | R62 |
Date Published | 2010 |
ISSN | 1474-760X |
Keywords | Base 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. |
DOI | 10.1186/gb-2010-11-6-r62 |
Alternate Journal | Genome Biol |
PubMed ID | 20565776 |
PubMed Central ID | PMC2911110 |
Grant List | U54 HG003273 / HG / NHGRI NIH HHS / United States U54HG003273 / HG / NHGRI NIH HHS / United States |
Whole exome capture in solution with 3 Gbp of data.
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