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Article

Genotyping inversions and tandem duplications.

Bioinformatics (Oxford, England) - 15 Dec 2017

Ebler Jana, Schönhuth Alexander, Marschall Tobias

Abstract excerpt

MOTIVATION: Next Generation Sequencing (NGS) has enabled studying structural genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been shown to play important roles in multiple diseases, including cancer. As costs for NGS continue to decline and variant databases become ever more complete, the relevance of genotyping also SVs from NGS data increases steadily, which is in stark...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28169394
DOI: 10.1093/bioinformatics/btx020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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