A high-resolution copy-number variation resource for clinical and population genetics.

ABSTRACT:

Purpose

Chromosomal microarray analysis to assess copy-number variation has become a first-tier genetic diagnostic test for individuals with unexplained neurodevelopmental disorders or multiple congenital anomalies. More than 100 cytogenetic laboratories worldwide use the new ultra-high resolution Affymetrix CytoScan-HD array to genotype hundreds of thousands of samples per year. Our aim was to develop a copy-number variation resource from a new population sample that would enable more accurate interpretation of clinical genetics data on this microarray platform and others.

Methods

Genotyping of 1,000 adult volunteers who are broadly representative of the Ontario population (as obtained from the Ontario Population Genomics Platform) was performed with the CytoScan-HD microar

SUBMITTER: Uddin M 

PROVIDER: S-EPMC4752593 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature