Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogenic variants in genes associated with these conditi...

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Bibliographic Details
Main Authors: Evgeniia A. Sotnikova, Anna V. Kiseleva, Vladimir A. Kutsenko, Anastasia A. Zharikova, Vasily E. Ramensky, Mikhail G. Divashuk, Yuri V. Vyatkin, Marina V. Klimushina, Alexandra I. Ershova, Karina Z. Revazyan, Olga P. Skirko, Marija Zaicenoka, Irina A. Efimova, Maria S. Pokrovskaya, Oksana V. Kopylova, Anush M. Glechan, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Journal of Personalized Medicine
Subjects:
carrier screening
<i>CFTR</i>
<i>PAH</i>
<i>SERPINA1</i>
<i>GJB2</i>
autosomal recessive disorders
Online Access:https://www.mdpi.com/2075-4426/12/7/1132

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https://www.mdpi.com/2075-4426/12/7/1132

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