SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.

ABSTRACT: There is an increasing need to use genome and transcriptome sequencing to genetically diagnose patients suffering from suspected monogenic rare diseases. The proper detection of compound heterozygous variant combinations as disease-causing candidates is a challenge in diagnostic workflows as haplotype information is lost by currently used next-generation sequencing technologies. Consequently, computational tools are required to phase, or resolve the haplotype of, the high number of heterozygous variants in the exome or genome of each patient. Here we present SmartPhase, a phasing tool designed to efficiently reduce the set of potential compound heterozygous variant pairs in genetic diagnoses pipelines. The phasing algorithm of SmartPhase creates haplotypes using both parental genotype info

SUBMITTER: Hager P 

PROVIDER: S-EPMC7032729 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature