PipeIT2: A tumor-only somatic variant calling workflow for molecular diagnostic Ion Torrent sequencing data.

Schnidrig, Desiree; Garofoli, Andrea; Benjak, Andrej; Rätsch, Gunnar; Rubin, Mark A; Piscuoglio, Salvatore; Ng, Charlotte K Y

Schnidrig, Desiree; Garofoli, Andrea; Benjak, Andrej; Rätsch, Gunnar; Rubin, Mark A; Piscuoglio, Salvatore; Ng, Charlotte K Y.

Afiliación

Schnidrig D; Department for BioMedical Research, University of Bern, 3008 Bern, Switzerland; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Garofoli A; Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, 4001 Basel, Switzerland.
Benjak A; Department for BioMedical Research, University of Bern, 3008 Bern, Switzerland; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Rätsch G; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland; Department of Computer Science, ETH Zurich.
Rubin MA; Department for BioMedical Research, University of Bern, 3008 Bern, Switzerland; Bern Center for Precision Medicine, Bern, Switzerland.
Piscuoglio S; Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, 4001 Basel, Switzerland; Department of Biomedicine, University Hospital Basel, University of Basel, 4001 Basel, Switzerland.
Ng CKY; Department for BioMedical Research, University of Bern, 3008 Bern, Switzerland; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland; Bern Center for Precision Medicine, Bern, Switzerland. Electronic address: charlotte.ng@unibe.ch.

Genomics ; 115(2): 110587, 2023 03.

Article en En | MEDLINE | ID: mdl-36796655

Asunto(s)

Neoplasias; Humanos; Neoplasias/diagnóstico; Neoplasias/genética; Patología Molecular; Flujo de Trabajo; Reproducibilidad de los Resultados; Medicina de Precisión; Mutación; Secuenciación de Nucleótidos de Alto Rendimiento

Palabras clave

Ion torrent; Molecular diagnostics; Next-generation sequencing; Singularity; Somatic mutations; Variant calling; cancer genomics

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genomics Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Suiza

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google