Evaluating nanopore sequencing data processing pipelines for structural variation identification
نویسندگان
چکیده
منابع مشابه
Nanopore sequencing detects structural variants in cancer.
Despite advances in sequencing, structural variants (SVs) remain difficult to reliably detect due to the short read length (<300 bp) of 2nd generation sequencing. Not only do the reads (or paired-end reads) need to straddle a breakpoint, but repetitive elements often lead to ambiguities in the alignment of short reads. We propose to use the long-reads (up to 20 kb) possible with 3rd generation ...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2019
ISSN: 1474-760X
DOI: 10.1186/s13059-019-1858-1