DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome Sequencing.

Türk, Erdem; Ayaz, Akif; Yüksek, Ayhan; Süzek, Baris E

Türk, Erdem; Ayaz, Akif; Yüksek, Ayhan; Süzek, Baris E.

Afiliación

Türk E; Department of Computer Engineering, Mugla Sitki Koçman University, Mugla, Turkey.
Ayaz A; Bioinformatics Graduate Program, Mugla Sitki Koçman University, Mugla, Turkey.
Yüksek A; Department of Medical Genetics, School of Medicine, Istanbul Medipol University, Istanbul, Turkey.
Süzek BE; Department of Computer Engineering, Mugla Sitki Koçman University, Mugla, Turkey.

PeerJ ; 11: e16026, 2023.

Article en En | MEDLINE | ID: mdl-37727687

Asunto(s)

Existencialismo; Enfermedad de Hirschsprung; Humanos; Secuenciación del Exoma; Bases de Datos Factuales; Genómica; Enfermedad de Hirschsprung/diagnóstico

Palabras clave

Clinical NGS informatics; Genetic diseases; Genetic disposition to disease; Genetic variants; Medical genetics; Next-generation sequence (NGS) analysis; Whole-exome sequencing (WES) analysis

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Existencialismo / Enfermedad de Hirschsprung Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: PeerJ Año: 2023 Tipo del documento: Article País de afiliación: Turquía

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