Assessing structural variation in a personal genome—towards a human reference diploid genome

April 2015

Adam C English, William J Salerno, Oliver A Hampton, Claudia Gonzaga-Jauregui, Shruthi Ambreth, Deborah I Ritter, Christine R Beck, Caleb F Davis, Mahmoud Dahdouli, Singer Ma, Andrew Carroll, Narayanan Veeraraghavan, Jeremy Bruestle, Becky Drees, Alex Hastie, Ernest T Lam, Simon White, Pamela Mishra, Min Wang, Yi Han, Feng Zhang, Pawel Stankiewicz, David A Wheeler, Jeffrey G Reid, Donna M Muzny, Jeffrey Rogers, Aniko Sabo, Kim C Worley, James R Lupski, Eric Boerwinkle and Richard A Gibbs

In this BMC Genomics paper, scientists characterize structural variation across a human genome using Parliament, a new structural variant-calling pipeline developed at Baylor. They found that long reads are critical to detecting structural variants. BluePippin was used to prepare 20 Kb libraries for the PacBio sequencer.

BMC Genomics 2015, 16:286

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