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Genotype-First Analysis Is an Effective Strategy for Identifying Diagnostic Variants in Known Disease Genes and Candidate Variants in Novel Genes.

Sociedad  Española de Neurologica Pediatricia 2022 (SENEP 2022)

May 26-28, 2022, Benidorm, Spain

Genotype-first analysis is an effective strategy for identifying diagnostic variants in known disease genes and candidate variants in novel genes.

Authors: Schleit J, Gall K, Saarinen I, du Souich C, Niskakoski A, Tommiska J, Kansakoski J, Tallila J, Kampjarvi K,  Alakurtti K, Wells K, Pelttari L, Koskinen L,  Calco del Castillo M, Kaare M, Perez R Carro, RS Alcudia,  Tuupanen S, Valo S, Kangas-Kontio T, Koskenvuo J, and Alastalo T-P

Specialties: Genetics

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