Article

Aquila_stLFR: diploid genome assembly based structural variant calling package for stLFR linked-read

2019-08-21

Abstract excerpt

<h4>Motivation</h4> Identifying structural variants (SVs) is of critical importance in health and disease, however, detecting them remains a scientific and computing challenge. Several linked-read sequencing technologies, including 10X linked-read, TELL-Seq, and single tube long fragment read (stLFR), have been recently developed as cost-effective approaches to reconstruct multi-megabase haplotypes (phase blocks)...

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Literature Corpus work: bf2509ac-56a7-5584-b785-6e77bbe3ee50
DOI: 10.1101/742239

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