title: The role of replicates for error mitigation in next-generation sequencing.
abstract: Advances in next-generation sequencing (NGS) technologies have rapidly improved sequencing fidelity and substantially decreased sequencing error rates. However, given that there are billions of nucleotides in a human genome, even low experimental error rates yield many errors in variant calls. Erroneous variants can mimic true somatic and rare variants, thus requiring costly confirmatory experiments to minimize the number of false positives. Here, we discuss sources of experimental errors in NGS and how replicates can be used to abate such errors.
authors: 1] Program in Bioinformatics, Boston University, Massachusetts 02115, USA.Department of Genetics, Harvard Medical School, and the Wyss Institute for Biologically Inspired Engineering at Harvard University, Boston, Massachusetts 02115, USA. Present address: Expression Analysis, a Quintiles Company, Durham, North Carolina 27713, USA. [2].
authors: Kimberly
authors: K
authors: Robasky
authors: 1] Department of Genetics, Harvard Medical School, and the Wyss Institute for Biologically Inspired Engineering at Harvard University, Boston, Massachusetts 02115, USA. Department of Biology, Brigham Young University, Provo, Utah 84602, USA. Present address: Division of Pediatric Pharmacology and Drug Discovery, University of California, San Diego School of Medicine, La Jolla, California 92093, USA. [2].
authors: Nathan E
authors: NE
authors: Lewis
authors: Department of Genetics, Harvard Medical School, and the Wyss Institute for Biologically Inspired Engineering at Harvard University, Boston, Massachusetts 02115, USA.
authors: George M
authors: GM
authors: Church
mesh_terms: D015894:Genome, Human / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods* / Q000592:standards*; D006801:Humans; D012107:Research Design / Q000592:standards*; D018401:Sample Size