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Quest Diagnostics Patient Service Centers will have modified hours during the holiday season.

  • Closing early at 12:00pm on December 24, 2025
  • Closed on December 25, 2025
  • Closing early at 12:00pm on December 31, 2025
  • Closed on January 1, 2026


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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

European Society of Human Genetics

ESHG 2023

Glasgow, Scotland, UK, June 10-13, 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

Specialty: Genetics

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

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