title: Targeted sequencing of the human X chromosome exome.
abstract: We used a RainDance Technologies (RDT) expanded content library to enrich the human X chromosome exome (2.5 Mb) from 26 male samples followed by Illumina sequencing. Our multiplex primer library covered 98.05% of the human X chromosome exome in a single tube with 11,845 different PCR amplicons. Illumina sequencing of 24 male samples showed coverage for 97% of the targeted sequences. Sequence from 2 HapMap samples confirmed missing data rates of 2-3% at sites successfully typed by the HapMap project, with an accuracy of at least ~99.5% as compared to reported HapMap genotypes. Our demonstration that a RDT expanded content library can efficiently enrich and enable the routine sequencing of the human X chromosome exome suggests a wide variety of potential research and clinical applications for this platform.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
authors.forename: Kajari
authors.initials: K
authors.lastname: Mondal
authors.forename: Amol Carl
authors.initials: AC
authors.lastname: Shetty
authors.forename: Viren
authors.initials: V
authors.lastname: Patel
authors.forename: David J
authors.initials: DJ
authors.lastname: Cutler
authors.forename: Michael E
authors.initials: ME
authors.lastname: Zwick
mesh_terms: D000328:Adult; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D015723:Gene Library; D060148:HapMap Project; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers