SVIM: structural variant identification using mapped long reads

• Published in: Bioinformatics (Oxford, England) Vol. 35; no. 17; pp. 2907 - 2915
• Main Authors: Heller, David, Vingron, Martin
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.09.2019
• Subjects: Original Papers

Structural variants are defined as genomic variants larger than 50 bp. They have been shown to affect more bases in any given genome than single-nucleotide polymorphisms or small insertions and deletions. Additionally, they have great impact on human phenotype and diversity and have been linked to n...