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The Occurrence of Noncoding Variants, Copy Number Variants, Mosaic Variants and Variants in Difficult-to-Sequence Genes in Over 10,000 Whole Exome Sequencing Tests

American College of Medicine Genetics

Annual Clinical Genetics Meeting, ACMG 2023

Salt Lake City, UT, March 14-18, 2023

Poster presentation: The Occurrence of Noncoding Variants, Copy Number Variants, Mosaic Variants and Variants in Difficult-to-Sequence Genes in Over 10,000 Whole Exome Sequencing Tests

Authors: Gall K, Hathaway J, Scocchia A, Howell V, Sluyters A, Saarinen I, Kangas-Kontio T, Kaare M, Wells K, Calvo del Castillo M, Muona M, Pietila T, Rantanen M, Gentile M, Salmenperä P, Paananen J,  Myllykangas S, Koskenvuo J

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: Genetics

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