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Diagnosing Primary Immunodeficiencies: The Inclusion of High-Resolution CNV Analysis and Noncoding Variants on Next-Generation Sequencing Panels Improves Diagnostic Yield

National Society of Genetic Councelors
41st Annual Conference

NSG 2022

Nashville, TN, November 16 - 20, 2022

Poster presentation: Diagnosing primary immunodeficiencies: the inclusion of high-resolution CNV analysis and noncoding variants on next-generation sequencing panels improves diagnostic yield

Authors: Davies C, Kimberly Gall, Zöe Powis, Julie Hathaway, Alicia Scocchia, Elina Hirvonen, Päivi Kokkonen, Inka Saarinen, Matias Rantanen, Pertteli Salmenperä, Massimiliano Gentile, Jennifer Schleit, Lotta Koskinen, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

Specialties: Genetics. Infectious Disease

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