title: Polymorphism discovery in high-throughput resequenced microarray-enriched human genomic loci.
abstract: Identifying genetic variants and mutations that underlie human diseases requires development of robust, cost-effective tools for routine resequencing of regions of interest in the human genome. Here, we demonstrate that coupling Applied Biosystems SOLiD system-sequencing platform with microarray capture of targeted regions provides an efficient and robust method for high-coverage resequencing and polymorphism discovery in human protein-coding exons.
authors: ABI, Beverly, Massachusetts 01915, USA. alena.antipova@appliedbiosystems.com
authors: Alena A
authors: AA
authors: Antipova
authors: Tanya D
authors: TD
authors: Sokolsky
authors: Christopher R
authors: CR
authors: Clouser
authors: Eileen T
authors: ET
authors: Dimalanta
authors: Cynthia L
authors: CL
authors: Hendrickson
authors: Cisilya
authors: C
authors: Kosnopo
authors: Clarence C
authors: CC
authors: Lee
authors: Swati S
authors: SS
authors: Ranade
authors: Lei
authors: L
authors: Zhang
authors: Alan P
authors: AP
authors: Blanchard
authors: Kevin J
authors: KJ
authors: McKernan
mesh_terms: D001483:Base Sequence; D020811:Biomedical Technology / Q000379:methods; D005091:Exons; D014644:Genetic Variation; D015894:Genome, Human; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA / Q000379:methods*