|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|
|Keywords||Base 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 Journal||Genome Biol|
|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.
|Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nat Commun. 2023;14(1):6113..|
|PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023;110(10):1787-1803..|
|Chimeric RNAs reveal putative neoantigen peptides for developing tumor vaccines for breast cancer. Front Immunol. 2023;14:1188831..|