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Method: SvABA: genome-wide detection of structural variants and indels by local assembly
- Jeremiah A. Wala,
- Pratiti Bandopadhayay,
- Noah F. Greenwald,
- Ryan O'Rourke,
- Ted Sharpe,
- Chip Stewart,
- Steve Schumacher,
- Yilong Li,
- Joachim Weischenfeldt,
- Xiaotong Yao,
- Chad Nusbaum,
- Peter Campbell,
- Gad Getz,
- Matthew Meyerson,
- Cheng-Zhong Zhang,
- Marcin Imielinski,
- and Rameen Beroukhim
Genome Res. April 2018 28: 581-591; Published in Advance March 13, 2018, doi:10.1101/gr.221028.117
...by SvABA (red), HySA calls from PacBio sequencing data (blue), and the indel call set of the Genome in a Bottle consortium (green). (C) Comparison of detection accuracy of SvABA, LUMPY, DELLY, and Pindel for deletions (left) and for insertions/duplications (right) across three different length regimes...
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Editorial: New advances in sequence assembly
- Adam M. Phillippy
Genome Res. May 2017 27: xi-xiii; doi:10.1101/gr.223057.117
...B, et al. 2009. Real-time DNA sequencing from single polymerase molecules. Science 323: 133–138. FanX, ChaissonM,Nakhleh L, ChenK. 2017.HySA: aHybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies. Genome Res (this issue). doi: 10.1101/ gr...
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