Family reunion via error correction: an efficient analysis of duplex sequencing data
作者: Nicholas StolerBarbara ArbeithuberGundula PovysilMonika HeinzlRenato SalazarKateryna D MakovaIrene Tiemann-BoegeAnton Nekrutenko
作者单位: 1Graduate Program in Bioinformatics and Genomics, The Huck Institutes for Life Sciences, The Pennsylvania State University, University Park, PA, USA
2Department of Biology, The Pennsylvania State University, University Park, PA, USA
3Institut für Biophysik, Johannes Kepler Universität, Linz, Österreich, Austria
4Present Address: Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA
刊名: BMC Bioinformatics, 2020, Vol.21 (1), pp.R25-865
来源数据库: Springer Nature Journal
DOI: 10.1186/s12859-020-3419-8
关键词: Duplex sequenceLow frequency variantsBarcodesError correction
英文摘要: Abstract(#br)Background(#br)Duplex sequencing is the most accurate approach for identification of sequence variants present at very low frequencies. Its power comes from pooling together multiple descendants of both strands of original DNA molecules, which allows distinguishing true nucleotide substitutions from PCR amplification and sequencing artifacts. This strategy comes at a cost—sequencing the same molecule multiple times increases dynamic range but significantly diminishes coverage, making whole genome duplex sequencing prohibitively expensive. Furthermore, every duplex experiment produces a substantial proportion of singleton reads that cannot be used in the analysis and are thrown away. Results(#br)In this paper we demonstrate that a significant fraction of these reads contains...
全文获取路径: Springer Nature  (合作)
影响因子:3.024 (2012)