D. Ricke, James Watkins, Philip Fremont-Smith, Adam Michaleas
{"title":"IdPrism: Rapid Analysis of Forensic DNA Samples Using MPS SNP Profiles","authors":"D. Ricke, James Watkins, Philip Fremont-Smith, Adam Michaleas","doi":"10.1109/HPEC.2019.8916521","DOIUrl":null,"url":null,"abstract":"Massively parallel sequencing (MPS) of large single nucleotide polymorphism (SNP) panels enables identification, analysis of complex DNA mixture samples, and extended kinship predictions. Computational challenges related to SNP allele calling, probability of random man not excluded calculations, and both reference and complex mixture sample comparisons to tens of millions of reference profiles were encountered and resolved when scaling up from thousands to tens of thousands of SNP loci. A MPS SNP analysis pipeline is described for rapid analysis of forensic deoxyribonucleic acid (DNA) samples for thousands to tens of thousands of SNP loci against tens of millions of reference profiles. This pipeline is part of the MIT Lincoln Laboratory (MITLL) IdPrism advanced DNA forensic system.","PeriodicalId":184253,"journal":{"name":"2019 IEEE High Performance Extreme Computing Conference (HPEC)","volume":"8 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"2019 IEEE High Performance Extreme Computing Conference (HPEC)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1109/HPEC.2019.8916521","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 4
Abstract
Massively parallel sequencing (MPS) of large single nucleotide polymorphism (SNP) panels enables identification, analysis of complex DNA mixture samples, and extended kinship predictions. Computational challenges related to SNP allele calling, probability of random man not excluded calculations, and both reference and complex mixture sample comparisons to tens of millions of reference profiles were encountered and resolved when scaling up from thousands to tens of thousands of SNP loci. A MPS SNP analysis pipeline is described for rapid analysis of forensic deoxyribonucleic acid (DNA) samples for thousands to tens of thousands of SNP loci against tens of millions of reference profiles. This pipeline is part of the MIT Lincoln Laboratory (MITLL) IdPrism advanced DNA forensic system.
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