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J Biomol Tech. 2009 Dec;20(5):253-7.

Polymorphism discovery in high-throughput resequenced microarray-enriched human genomic loci.

Author information

  • 1ABI, Beverly, Massachusetts 01915, USA. alena.antipova@appliedbiosystems.com

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.

KEYWORDS:

SNP; high density oligonucleotide array; hybridization; massively parallel sequencing

PMID:
19949697
[PubMed - indexed for MEDLINE]
PMCID:
PMC2777346
Free PMC Article

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