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

摘要

Exomeandwhole-genomeanalysespoweredbynext-generationsequencing(NGS)havebecomeinvaluabletoolsinidentifyingcausalmutationsresponsibleforMendeliandisorders.Giventhatindividualexomescontainseveralthousandsinglenucleotidevariantsandinsertions/deletions,itremainsachallengetoanalyzelargenumbersofvariantsfrommultipleexomestoidentifycausalallelesassociatedwithinheritedconditions.Tothisend,wehavedevelopeduser-friendlysoftwarethatanalyzesvariantcallsfrommultipleindividualstofacilitateidentificationofcausalmutations.Thesoftware,termedexomeSuite,filtersforputativecausativevariantsofmonogenicdiseasesinheritedinoneofthreeforms:dominant,recessivecausedbyahomozygousvariant,orrecessivecausedbytwocompoundheterozygousvariants.Inaddition,exomeSuitecanperformhomozygositymappingandanalyzethevariantdataofmultipleunrelatedindividuals.HerewedemonstratethatfilteringofvariantswithexomeSuitereducesdatasetstoafractionofapercentoftheiroriginalsize.Tothebestofourknowledgethisisthefirstfreelyavailablesoftwaredevelopedtoanalyzevariantdatafrommultipleindividualsthatrapidlyassimilatesandfilterslargedatasetsbasedonpatternofinheritance./p/div