title: Enrichment of sequencing targets from the human genome by solution hybridization.
abstract: To exploit fully the potential of current sequencing technologies for population-based studies, one must enrich for loci from the human genome. Here we evaluate the hybridization-based approach by using oligonucleotide capture probes in solution to enrich for approximately 3.9 Mb of sequence target. We demonstrate that the tiling probe frequency is important for generating sequence data with high uniform coverage of targets. We obtained 93% sensitivity to detect SNPs, with a calling accuracy greater than 99%.
authors.affiliation: Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, 3344 N Torrey Pines Court, La Jolla, CA 92037, USA. rtewhey@ucsd.edu
authors.forename: Ryan
authors.initials: R
authors.lastname: Tewhey
authors.forename: Masakazu
authors.initials: M
authors.lastname: Nakano
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Wang
authors.forename: Carlos
authors.initials: C
authors.lastname: Pabón-Peña
authors.forename: Barbara
authors.initials: B
authors.lastname: Novak
authors.forename: Angelica
authors.initials: A
authors.lastname: Giuffre
authors.forename: Eric
authors.initials: E
authors.lastname: Lin
authors.forename: Scott
authors.initials: S
authors.lastname: Happe
authors.forename: Doug N
authors.initials: DN
authors.lastname: Roberts
authors.forename: Emily M
authors.initials: EM
authors.lastname: LeProust
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Topol
authors.forename: Olivier
authors.initials: O
authors.lastname: Harismendy
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Frazer
mesh_terms: D001483:Base Sequence; D002460:Cell Line; D015342:DNA Probes / Q000378:metabolism; D005091:Exons / Q000235:genetics; D015723:Gene Library; D015894:Genome, Human / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*; D012996:Solutions
chemical_list: D015342:DNA Probes; D012996:Solutions