exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
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 heterozygous variants. In addition, exomeSuite can perform homozygosity mapping and analyze the variant data of multiple unrelated individuals. Here we demonstrate that filtering of variants with exomeSuite reduces datasets to a fraction of a percent of their original size. To the best of our knowledge this is the first freely available software developed to analyze variant data from multiple individuals that rapidly assimilates and filters large data sets based on pattern of inheritance.
['Maranhao|B|B|', 'Biswas|P|P|', 'Duncan|J L|JL|', 'Branham|K E|KE|', 'Silva|G A|GA|', 'Naeem|M A|MA|', 'Khan|S N|SN|', 'Riazuddin|S|S|', 'Hejtmancik|J F|JF|', 'Heckenlively|J R|JR|', 'Riazuddin|S A|SA|', 'Lee|P L|PL|', 'Ayyagari|R|R|']
D000483:Alleles D004252:DNA Mutational Analysis D066264:Datasets as Topic D059472:Exome D005260:Female D030342:Genetic Diseases, Inborn D055106:Genome-Wide Association Study D006579:Heterozygote D006720:Homozygote D006801:Humans D054643:INDEL Mutation D008297:Male D010375:Pedigree D020641:Polymorphism, Single Nucleotide D012984:Software
Exome Filtering Software Homozygosity mapping Mendelian disease