Article
AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.
Human mutation - 1 Apr 2015
Hsu Arthur L, Kondrashova Olga, Lunke Sebastian, Love Clare J, Meldrum Cliff, Marquis-Nicholson Renate, Corboy Greg, Pham Kym, Wakefield Matthew, Waring Paul M, Taylor Graham R
Abstract excerpt
Conventional means of identifying variants in high-throughput sequencing align each read against a reference sequence, and then call variants at each position. Here, we demonstrate an orthogonal means of identifying sequence variation by grouping the reads as amplicons prior to any alignment. We used AmpliVar to make key-value hashes of sequence reads and group reads as individual amplicons using a table of...
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