Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity.

Hassan, Marwa S; Shaalan, A A; Dessouky, M I; Abdelnaiem, Abdelaziz E; ElHefnawi, Mahmoud

Hassan, Marwa S; Shaalan, A A; Dessouky, M I; Abdelnaiem, Abdelaziz E; ElHefnawi, Mahmoud.

Afiliação

Hassan MS; Systems and Information Department and Biomedical Informatics Group, Engineering Research Division, National Research Center, Giza, Egypt; Patent Office of Scientific Research Academy, Egypt. Electronic address: ms.hassan-elsayed@nrc.sci.eg.
Shaalan AA; Electronics and Communication Department, Faculty of Engineering, Zagazig University, Zagazig, Egypt.
Dessouky MI; Electronics and Electrical Communications Department, Faculty of Electronic Engineering, Menoufia University, Menouf 32952, Egypt.
Abdelnaiem AE; Electronics and Communication Department, Faculty of Engineering, Zagazig University, Zagazig, Egypt.
ElHefnawi M; Systems and Information Department and Biomedical Informatics Group, Engineering Research Division, National Research Center, Giza, Egypt; Center for Informatics, Nile University, Giza, Egypt.

Genomics ; 111(4): 869-882, 2019 07.

Article em En | MEDLINE | ID: mdl-29842949

Assuntos

Predisposição Genética para Doença; Estudo de Associação Genômica Ampla/métodos; Aprendizado de Máquina/normas; Polimorfismo de Nucleotídeo Único; Software/normas; Estudo de Associação Genômica Ampla/normas; Humanos

Palavras-chave

Computational techniques; FATHMM; Meta classifier (CSTJ48); Mutation Assessor; Neutral variants; Non-synonymous SNVs (nsSNVs); PANTHER; PON P2; Pathogenic variants; Provean; SIFT; SNAP2; iFish

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Evaluation_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google