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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563953/
https://www.ncbi.nlm.nih.gov/pubmed/32971794
http://dx.doi.org/10.3390/jpm10030140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563953/
https://www.ncbi.nlm.nih.gov/pubmed/32971794
http://dx.doi.org/10.3390/jpm10030140

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