title: Whole human exome capture for high-throughput sequencing.
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.
authors.affiliation: Division of Malaria and Parasitic Diseases, National Institute of Health, Seoul, Korea.
authors.forename: Dae-Won
authors.initials: DW
authors.lastname: Kim
authors.forename: Seong-Hyeuk
authors.initials: SH
authors.lastname: Nam
authors.forename: Ryong Nam
authors.initials: RN
authors.lastname: Kim
authors.forename: Sang-Haeng
authors.initials: SH
authors.lastname: Choi
authors.forename: Hong-Seog
authors.initials: HS
authors.lastname: Park
mesh_terms: D002874:Chromosome Mapping; D005091:Exons / Q000235:genetics*; D015894:Genome, Human; D023281:Genomics; D057166:High-Throughput Screening Assays; D006801:Humans; D035683:MicroRNAs / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D035683:MicroRNAs