Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA

Despite whole-genome sequencing (WGS), many cases of single-gene disorders remain unsolved, impeding diagnosis and preventative care for people whose disease-causing variants escape detection. Since early WGS data analytic steps prioritize protein-coding sequences, to simultaneously prioritize varia...

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Detalles Bibliográficos
Autores principales: Xiao, Sihao, Kai, Zhentian, Murphy, Daniel, Li, Dongyang, Patel, Dilip, Bielowka, Adrianna M., Bernabeu-Herrero, Maria E., Abdulmogith, Awatif, Mumford, Andrew D., Westbury, Sarah K., Aldred, Micheala A., Vargesson, Neil, Caulfield, Mark J., Shovlin, Claire L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645545/
https://www.ncbi.nlm.nih.gov/pubmed/37816352
http://dx.doi.org/10.1016/j.ajhg.2023.09.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645545/
https://www.ncbi.nlm.nih.gov/pubmed/37816352
http://dx.doi.org/10.1016/j.ajhg.2023.09.005

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