ExomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

ABSTRACT: Exome and whole-genome analyses powered by next-generation sequencing (NGS) have become invaluable tools in identifying causal mutations responsible for Mendelian disorders. Given that individual exomes contain several thousand single nucleotide variants and insertions/deletions, it remains a challenge to analyze large numbers of variants from multiple exomes to identify causal alleles associated with inherited conditions. To this end, we have developed user-friendly software that analyzes variant calls from multiple individuals to facilitate identification of causal mutations. The software, termed exomeSuite, filters for putative causative variants of monogenic diseases inherited in one of three forms: dominant, recessive caused by a homozygous variant, or recessive caused by two compound

SUBMITTER: Maranhao B 

PROVIDER: S-EPMC4146529 | biostudies-literature | 2014 Feb-Mar

REPOSITORIES: biostudies-literature