Whole human exome capture for high-throughput sequencing

Genome. 2010 Jul;53(7):568-74. doi: 10.1139/g10-025.

Abstract

We captured the whole human exome by hybridization using synthesized oligonucleotides, based on a high-density microarray design, and we sequenced those captured human exons using high-throughput sequencing on a Genome Sequencer FLX instrument. Of the uniquely mapped reads, 71% fell within target regions, and these corresponded to coverage of 94% of human genes, 87% of exons, and 70% of the total base-pair length of the CCDS set. Our study provides strong evidence for the practical usefulness of this method on a genome-wide scale, showing the resequenced whole human exome database with 501 microRNAs and 307 novel SNPs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Exons / genetics*
  • Genome, Human*
  • Genomics*
  • High-Throughput Screening Assays*
  • Humans
  • MicroRNAs / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide / genetics*
  • Sequence Analysis, DNA

Substances

  • MicroRNAs