Integrated analysis of whole-genome paired-end and mate-pair sequencing data for identifying genomic structural variations in multiple myeloma.
作者： Rendong Yang , Li Chen , Scott Newman , Khanjan Gandhi , Gregory Doho
DOI: 10.4137/CIN.S13783
关键词:
摘要: We present a pipeline to perform integrative analysis of mate-pair (MP) and paired-end (PE) genomic DNA sequencing data. Our detects structural variations (SVs) by taking aligned read pairs as input classifying these reads into properly paired discordantly categories based on their orientation inferred insert sizes. Recurrent SV was identified from the discordant pairs. takes account annotation genome repetitive element information increase detection specificity. Application our whole-genome MP PE data three multiple myeloma cell lines (KMS11, MM.1S, RPMI8226) recovered known SVs, such heterozygous TRAF3 deletion, well novel experimentally validated SPI1 – ZNF287 inter-chromosomal rearrangement in RPMI8226 line.
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