Article
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2024
Rips Jonathan, Halstuk Orli, Fuchs Adina, Lang Ziv, Sido Tal, Gershon-Naamat Shiri, Abu-Libdeh Bassam, Edvardson Simon, Salah Somaya, Breuer Oded, Hadhud Mohamad, Eden Sharon, Simon Itamar, Slae Mordechai, Damseh Nadirah S, Abu-Libdeh Abdulsalam, Eskin-Schwartz Marina, Birk Ohad S, Varga Julia, Schueler-Furman Ora, Rosenbluh Chaggai, Elpeleg Orly, Yanovsky-Dagan Shira, Mor-Shaked Hagar, Harel Tamar
Abstract excerpt
PURPOSE: Widespread application of next-generation sequencing, combined with data exchange platforms, has provided molecular diagnoses for countless families. To maximize diagnostic yield, we implemented an unbiased semi-automated genematching algorithm based on genotype and phenotype matching. METHODS: Rare homozygous variants identified in 2 or more affected individuals, but not in healthy individuals, were...
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