Whole exome capture in solution with 3 Gbp of data

Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17.


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Base Pairing / genetics*
  • Databases, Nucleic Acid*
  • Exons / genetics*
  • Gene Library
  • Haplotypes / genetics
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Reproducibility of Results
  • Sequence Alignment
  • Sequence Analysis, DNA / methods*
  • Solutions


  • Solutions