Article

Accurate detection of complex structural variations using single molecule sequencing

2017-07-28

Abstract excerpt

Structural variations (SVs) are the largest source of genetic variation, but remain poorly understood because of limited genomics technology. Single molecule long read sequencing from Pacific Biosciences and Oxford Nanopore has the potential to dramatically advance the field, although their high error rates challenge existing methods. Addressing this need, we introduce open-source methods for long read alignment (...

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Literature Corpus work: 496d2a48-718c-5690-b917-757f162a4407
DOI: 10.1101/169557

Open publication

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