Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
Abstract
We sequenced the genome of the Yoruban reference individual NA19240 on the long-read sequencing platform Oxford Nanopore PromethION for evaluation and benchmarking of recently published aligners and germline structural variant calling tools, as well as a comparison with the performance of structural variant calling from short-read sequencing data. The structural variant caller Sniffles after NGMLR or minimap2 alignment provides the most accurate...
Paper Details
Title
Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
Published Date
Jun 11, 2019
Journal
Volume
29
Issue
7
Pages
1178 - 1187
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