Novel copy-number variants in a population-based investigation of classic heterotaxy.

ABSTRACT:

Purpose

Heterotaxy is a clinically and genetically heterogeneous disorder. We investigated whether screening cases restricted to a classic phenotype would result in the discovery of novel, potentially causal copy-number variants.

Methods

We identified 77 cases of classic heterotaxy from all live births in New York State during 1998-2005. DNA extracted from each infant's newborn dried blood spot was genotyped with a microarray containing 2.5 million single-nucleotide polymorphisms. Copy-number variants were identified with PennCNV and cnvPartition software. Candidates were selected for follow-up if they were absent in unaffected controls, contained 10 or more consecutive probes, and had minimal overlap with variants published in the Database of Genomic Variants.

Results

SUBMITTER: Rigler SL 

PROVIDER: S-EPMC5901701 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature