Fast and accurate mutation detection in whole genome sequences of multiple isogenic samples with IsoMut.

Pipek, O; Ribli, D; Molnár, J; Póti, Á; Krzystanek, M; Bodor, A; Tusnády, G E; Szallasi, Z; Csabai, I; Szüts, D

Pipek, O; Ribli, D; Molnár, J; Póti, Á; Krzystanek, M; Bodor, A; Tusnády, G E; Szallasi, Z; Csabai, I; Szüts, D.

Afiliación

Pipek O; Department of Physics of Complex Systems, Eötvös Loránd University, H-1117, Budapest, Hungary.
Ribli D; Department of Physics of Complex Systems, Eötvös Loránd University, H-1117, Budapest, Hungary.
Molnár J; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, H-1117, Budapest, Hungary.
Póti Á; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, H-1117, Budapest, Hungary.
Krzystanek M; Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, DK-2800, Lyngby, Denmark.
Bodor A; Department of Physics of Complex Systems, Eötvös Loránd University, H-1117, Budapest, Hungary.
Tusnády GE; Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, H-1117, Budapest, Hungary.
Szallasi Z; Center for Biological Sequence Analysis, Department of Systems Biology, Technical University of Denmark, DK-2800, Lyngby, Denmark.
Csabai I; Computational Health Informatics Program (CHIP), Boston Children's Hospital, Boston, USA.
Szüts D; Harvard Medical School, Boston, MA, 02215, USA.

BMC Bioinformatics ; 18(1): 73, 2017 Jan 31.

Article en En | MEDLINE | ID: mdl-28143617

Asunto(s)

Análisis Mutacional de ADN/métodos; Secuenciación de Nucleótidos de Alto Rendimiento/métodos; Programas Informáticos; Algoritmos; Genómica/métodos; Humanos; Mutación; Eliminación de Secuencia

Palabras clave

Demonstrative algorithm; Low false positive rate; Multiple isogenic samples; Mutagenesis; Next generation sequencing; Somatic mutation detection

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Programas Informáticos / Análisis Mutacional de ADN / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: BMC Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Hungria Pais de publicación: Reino Unido

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