Accurate detection of complex structural variations using single-molecule sequencing.
Abstract
Structural variations are the greatest source of genetic variation, but they remain poorly understood because of technological limitations. Single-molecule long-read sequencing has the potential to dramatically advance the field, although high error rates are a challenge with existing methods. Addressing this need, we introduce open-source methods for long-read alignment (NGMLR; https://github.com/philres/ngmlr ) and structural variant...
Paper Details
Title
Accurate detection of complex structural variations using single-molecule sequencing.
Published Date
Apr 30, 2018
Journal
Volume
15
Issue
6
Pages
461 - 468
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