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

Fang, Mingyan; Su, Zheng; Abolhassani, Hassan; Itan, Yuval; Jin, Xin; Hammarström, Lennart

Fang, Mingyan; Su, Zheng; Abolhassani, Hassan; Itan, Yuval; Jin, Xin; Hammarström, Lennart.

Afiliação

Fang M; BGI-Shenzhen, Shenzhen 518083, China.
Su Z; Division of Clinical Immunology at the Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-141 86 Stockholm, Sweden.
Abolhassani H; BGI-Singapore, Singapore 138567, Singapore.
Itan Y; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, New South Wales, Australia.
Jin X; GenieUs Genomics, 19A Boundary St, Darlinghurst NSW 2010, Australia.
Hammarström L; Division of Clinical Immunology at the Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-141 86 Stockholm, Sweden.

Brief Bioinform ; 23(5)2022 09 20.

Article em En | MEDLINE | ID: mdl-35598327

Assuntos

Polimorfismo de Nucleotídeo Único; Doenças da Imunodeficiência Primária; Algoritmos; Humanos; Nucleotídeos; Virulência

Palavras-chave

computational analysis; genetic mutation; inborn errors of immunity (IEI); machine learning; primary immunodeficiency (PID); variant prediction

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Doenças da Imunodeficiência Primária Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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