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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki