Article

Longshot: accurate variant calling in diploid genomes using single-molecule long read sequencing

2019-03-01

Abstract excerpt

Short-read sequencing technologies such as Illumina enable the accurate detection of single nucleotide variants (SNVs) and short insertion/deletion variants in human genomes but are unable to provide information about haplotypes and variants in repetitive regions of the genome. Single-molecule sequencing technologies such as Pacific Biosciences and Oxford Nanopore generate long reads (≥ 10 kb in length) that can p...

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Literature Corpus work: 43362abb-5bf2-5ac1-b2d7-69e96cb88c8a
DOI: 10.1101/564443

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