Article
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.
Genome research - 1 Sept 2009
McKernan Kevin Judd, Peckham Heather E, Costa Gina L, McLaughlin Stephen F, Fu Yutao, Tsung Eric F, Clouser Christopher R, Duncan Cisyla, Ichikawa Jeffrey K, Lee Clarence C, Zhang Zheng, Ranade Swati S, Dimalanta Eileen T, Hyland Fiona C, Sokolsky Tanya D, Zhang Lei, Sheridan Andrew, Fu Haoning, Hendrickson Cynthia L, Li Bin, Kotler Lev, Stuart Jeremy R, Malek Joel A, Manning Jonathan M, Antipova Alena A, Perez Damon S, Moore Michael P, Hayashibara Kathleen C, Lyons Michael R, Beaudoin Robert E, Coleman Brittany E, Laptewicz Michael W, Sannicandro Adam E, Rhodes Michael D, Gottimukkala Rajesh K, Yang Shan, Bafna Vineet, Bashir Ali, MacBride Andrew, Alkan Can, Kidd Jeffrey M, Eichler Evan E, Reese Martin G, De La Vega Francisco M, Blanchard Alan P
Abstract excerpt
We describe the genome sequencing of an anonymous individual of African origin using a novel ligation-based sequencing assay that enables a unique form of error correction that improves the raw accuracy of the aligned reads to >99.9%, allowing us to accurately call SNPs with as few as two reads per allele. We collected several billion mate-paired reads yielding approximately 18x haploid coverage of aligned...
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