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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Publicado no:J Pers Med
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha: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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