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

April 2015

Authors:
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

Info:
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.

Citation:
BMC Genomics 2015, 16:286
doi:10.1186/s12864-015-1479-3

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