Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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An integrated map of structural variation in 2,504 human genomes

Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner et al. · Nature · 2015 · 2.7K citations · Full text

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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

Eric Talevich, A. Hunter Shain, Thomas Botton et al. · PLoS Computational Biology · 2016 · 2.3K citations · Full text

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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

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The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R. MacDonald, Robert Ziman, Ryan K. C. Yuen et al. · Nucleic Acids Research · 2013 · 1.4K citations · Full text

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