Article

SVIM: Structural Variant Identification using Mapped Long Reads

2018-12-13

Abstract excerpt

<h4>Motivation</h4> Structural variants are defined as genomic variants larger than 50bp. They have been shown to affect more bases in any given genome than SNPs or small indels. Additionally, they have great impact on human phenotype and diversity and have been linked to numerous diseases. Due to their size and association with repeats, they are difficult to detect by shotgun sequencing, especially when based on...

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Literature Corpus work: 878202cb-7969-562e-84a9-e5223011fb89
DOI: 10.1101/494096

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