Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation.

ABSTRACT:

Motivation

Genomic copy number variation (CNV) can influence susceptibility to common diseases. High-throughput measurement of gene copy number on large numbers of samples is a challenging, yet critical, stage in confirming observations from sequencing or array Comparative Genome Hybridization (CGH). The paralogue ratio test (PRT) is a simple, cost-effective method of accurately determining copy number by quantifying the amplification ratio between a target and reference amplicon. PRT has been successfully applied to several studies analyzing common CNV. However, its use has not been widespread because of difficulties in assay design.

Results

We present PRTPrimer (www.prtprimer.org) software for automated PRT assay design. In addition to stand-alone software, the web site in

SUBMITTER: Veal CD 

PROVIDER: S-EPMC3722521 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature