Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

ABSTRACT: The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. We developed a web-based compound heterozygous filter that is suited for data from NGS projects and that is easy to use for non-bioinformaticians. We analyzed the power of compound heterozygous mutation filtering by deriving background distributions for healthy individuals from different ethnicities and studied the effectiveness in trios as well as more complex pedigree structures. While usually more then 30 genes harbor potential compound heterozygotes in single exomes, this number can be markedly

SUBMITTER: Kamphans T 

PROVIDER: S-EPMC3734130 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature