VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases

Distinguishing pathogenic variants from non-pathogenic ones remains a major challenge in clinical genetic testing of primary immunodeficiency (PID) patients. Most of the existing mutation pathogenicity prediction tools treat all mutations as homogeneous entities, ignoring the differences in characte...

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Detalles Bibliográficos
Autores principales: Fang, Mingyan, Su, Zheng, Abolhassani, Hassan, Itan, Yuval, Jin, Xin, Hammarström, Lennart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Problem Solving Protocol
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9487673/
https://www.ncbi.nlm.nih.gov/pubmed/35598327
http://dx.doi.org/10.1093/bib/bbac176

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9487673/
https://www.ncbi.nlm.nih.gov/pubmed/35598327
http://dx.doi.org/10.1093/bib/bbac176

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