Identification of pathogenic variant burden and selection of optimal diagnostic method is a way to improve carrier screening for autosomal recessive diseases

HIGHLIGHTS

• who: Evgeniia A. Sotnikova and colleagues from the Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, Leninskie Gory, Moscow, Russia have published the research work: Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases, in the Journal: (JOURNAL)
• what: This study provides new AF data for variants associated with the studied disorders and the comparison of genotyping methods for carrier screening. The aim of this study was to evaluate AF for 115 variants in CFTR, PAH, SERPINA1, and GJB2 genes based . . .
  

   

  

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