Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati, Elias L; Spencer, Emily G; Topol, Sarah E; Muse, Evan D; Rueda, Manuel; Lucas, Jonathan R; Wagner, Glenn N; Campman, Steven; Topol, Eric J; Torkamani, Ali

Salfati, Elias L; Spencer, Emily G; Topol, Sarah E; Muse, Evan D; Rueda, Manuel; Lucas, Jonathan R; Wagner, Glenn N; Campman, Steven; Topol, Eric J; Torkamani, Ali.

Afiliación

Salfati EL; Scripps Research Translational Institute at Scripps Research, La Jolla, CA, USA.
Spencer EG; Scripps Research Translational Institute at Scripps Research, La Jolla, CA, USA.
Topol SE; Scripps Research Translational Institute at Scripps Research, La Jolla, CA, USA.
Muse ED; Scripps Research Translational Institute at Scripps Research, La Jolla, CA, USA.
Rueda M; Division of Cardiology, Scripps Clinic, La Jolla, CA, USA.
Lucas JR; Scripps Research Translational Institute at Scripps Research, La Jolla, CA, USA.
Wagner GN; Los Angeles County Department of Medical Examiner-Coroner, Los Angeles, CA, USA.
Campman S; San Diego County Medical Examiner's Office, San Diego, CA, USA.
Topol EJ; San Diego County Medical Examiner's Office, San Diego, CA, USA.
Torkamani A; Scripps Research Translational Institute at Scripps Research, La Jolla, CA, USA.

Genome Med ; 11(1): 83, 2019 12 17.

Article en En | MEDLINE | ID: mdl-31847883

Asunto(s)

Muerte Súbita; Secuenciación del Exoma; Exoma/genética; Enfermedades Raras/diagnóstico; Adenosina Desaminasa/genética; Niño; Preescolar; Bases de Datos Genéticas; Femenino; Variación Genética; Humanos; Masculino; Cadenas Ligeras de Miosina/genética; Nucleotidasas/genética; Fenotipo; Enfermedades Raras/genética; Enfermedades Raras/patología; Ubiquitina-Proteína Ligasas/genética; Adulto Joven

Palabras clave

Automated periodic re-analysis; Medical genetics; Molecular autopsy; Rare and undiagnosed diseases; Sudden death; Whole-exome sequencing

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Muerte Súbita / Enfermedades Raras / Exoma / Secuenciación del Exoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genome Med Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google