Multi-perspective quality control of Illumina exome sequencing data using QC3

摘要

Advancesinnext-generationsequencing(NGS)technologieshavegreatlyimprovedourabilitytodetectgenomicvariantsforbiomedicalresearch.TheadvanceinNGStechnologieshasalsocreatedsignificantchallengesinbioinformatics.Oneofthemajorchallengesisthequalitycontrolofsequencingdata.Therehasbeenheavyfocusonperformingrawdataqualitycontrol.InordertocorrectlyinterpretthequalityoftheDNAsequencingdata,however,properqualitycontrolshouldbeconductedatallstagesofDNAsequencingdataanalysis:rawdata,alignment,andvariantdetection.WedesignedQC3,aqualitycontroltoolaimedatthosethreemajorstagesofDNAsequencing.QC3monitorsqualitycontrolmetricsateachstageofNGSdataandprovidesuniqueandindependentevaluationsofthedataqualityfromdifferentperspectives.QC3offersuniquefeaturessuchasdetectionofbatcheffectandcrosscontamination.QC3anditssourcecodearefreelydownloadableatspanid="ir0030"class="interref"data-locatorType="https"data-locatorKey="//github.com/slzhao/QC3"https://github.com/slzhao/QC3/a/span./p/div