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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)

Gordana Raca, Caroline Astbury, Andrea Behlmann, Mauricio De Castro, Scott E. Hickey, Ender Karaca, Chelsea Lowther, Erin Rooney Riggs, Bryce A. Seifert, Erik C. Thorland, Joshua L. Deignan

2022Genetics in Medicine40 citationsDOIOpen Access PDF

Topics & Concepts

Medical geneticsStatement (logic)GenomicsGermlineGeneticsComputational biologyMedicineBiologyGenomeGenePolitical scienceLawGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic factors in colorectal cancer
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) | Litcius