A Data-Driven Approach to Carrier Screening for Common Recessive Diseases

Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketon...

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Veröffentlicht in:J Pers Med
Hauptverfasser: Kiseleva, Anna V., Klimushina, Marina V., Sotnikova, Evgeniia A., Divashuk, Mikhail G., Ershova, Alexandra I., Skirko, Olga P., Kurilova, Olga V., Zharikova, Anastasia A., Khlebus, Eleonora Yu., Efimova, Irina A., Pokrovskaya, Maria S., Slominsky, Petr A., Shalnova, Svetlana A., Meshkov, Alexey N., Drapkina, Oxana M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7563953/
https://ncbi.nlm.nih.gov/pubmed/32971794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jpm10030140
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