title: Whole exome capture in solution with 3 Gbp of data.
abstract: 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.
authors.affiliation: Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA. bainbrid@bcm.edu
authors.forename: Matthew N
authors.initials: MN
authors.lastname: Bainbridge
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Burgess
authors.forename: Christie
authors.initials: C
authors.lastname: Kovar
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Rodesch
authors.forename: Mark
authors.initials: M
authors.lastname: D'Ascenzo
authors.forename: Jacob
authors.initials: J
authors.lastname: Kitzman
authors.forename: Yuan-Qing
authors.initials: YQ
authors.lastname: Wu
authors.forename: Irene
authors.initials: I
authors.lastname: Newsham
authors.forename: Todd A
authors.initials: TA
authors.lastname: Richmond
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Jeddeloh
authors.forename: Donna
authors.initials: D
authors.lastname: Muzny
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Albert
authors.forename: Richard A
authors.initials: RA
authors.lastname: Gibbs
mesh_terms: D020029:Base Pairing / Q000235:genetics*; D030561:Databases, Nucleic Acid; D005091:Exons / Q000235:genetics*; D015723:Gene Library; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015203:Reproducibility of Results; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA / Q000379:methods*; D012996:Solutions
chemical_list: D012996:Solutions