A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders

Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or the mothers of affected individuals with autosomal recessive or X-linked recessive diseases, respectively, are carrier(s). Carrier frequencies of rece...

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Detalles Bibliográficos
Autores principales: Zhu, Wenjuan, Wang, Chen, Mullapudi, Nandita, Cao, Yanan, Li, Lin, Lo, Ivan Fai Man, Tsui, Stephen Kwok-Wing, Chen, Xiao, Lei, Yong, Gu, Shen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763236/
https://www.ncbi.nlm.nih.gov/pubmed/36535936
http://dx.doi.org/10.1038/s41525-022-00344-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763236/
https://www.ncbi.nlm.nih.gov/pubmed/36535936
http://dx.doi.org/10.1038/s41525-022-00344-7

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