Polymorphism discovery in high-throughput resequenced microarray-enriched human genomic loci.
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.
Antipova
Alena A
AA
ABI, Beverly, Massachusetts 01915, USA. alena.antipova@appliedbiosystems.com
Sokolsky
Tanya D
TD
Clouser
Christopher R
CR
Dimalanta
Eileen T
ET
Hendrickson
Cynthia L
CL
Kosnopo
Cisilya
C
Lee
Clarence C
CC
Ranade
Swati S
SS
Zhang
Lei
L
Blanchard
Alan P
AP
McKernan
Kevin J
KJ
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*