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Article

A Practical Guide for Structural Variation Detection in the Human Genome.

Current protocols in human genetics - 1 Sept 2020

Yang Lixing

Abstract excerpt

Profiling genetic variants-including single nucleotide variants, small insertions and deletions, copy number variations, and structural variations (SVs)-from both healthy individuals and individuals with disease is a key component of genetic and biomedical research. SVs are large-scale changes in the genome and involve breakage and rejoining of DNA fragments. They may affect thousands to millions of nucleotides...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32813322
DOI: 10.1002/cphg.103
PMCID: PMC7738216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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