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Strand Orientation Bias Detector to determine the probability of FFPE sequencing artifacts.
Diossy, Miklos; Sztupinszki, Zsofia; Krzystanek, Marcin; Borcsok, Judit; Eklund, Aron C; Csabai, István; Pedersen, Anders Gorm; Szallasi, Zoltan.
Afiliação
  • Diossy M; Danish Cancer Society, Copenhagen, Denmark.
  • Sztupinszki Z; Danish Cancer Society, Copenhagen, Denmark.
  • Krzystanek M; Danish Cancer Society, Copenhagen, Denmark.
  • Borcsok J; University of Copenhagen and at the Danish Cancer Society, Copenhagen, Denmark.
  • Eklund AC; Clinical Microbiomics, Copenhagen, Denmark.
  • Csabai I; Department of Complex Physics, Eotvos Lorand University, Budapest, Hungary.
  • Pedersen AG; Techinal University of Denmark, Kgs. Lyngby, Denmark.
  • Szallasi Z; Boston Children's Hospital and Harvard Medical School, Boston, USA.
Brief Bioinform ; 22(6)2021 11 05.
Article em En | MEDLINE | ID: mdl-34015811
Formalin-fixed paraffin-embedded tissue, the most common tissue specimen stored in clinical practice, presents challenges in the analysis due to formalin-induced artifacts. Here, we present Strand Orientation Bias Detector (SOBDetector), a flexible computational platform compatible with all the common somatic SNV-calling pipelines, designed to assess the probability whether a given detected mutation is an artifact. The underlying predictor mechanism is based on the posterior distribution of a Bayesian logistic regression model trained on The Cancer Genome Atlas whole exomes. SOBDetector is a freely available cross-platform program, implemented in Java 1.8.
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Moldes Genéticos / Modelos Estatísticos / Técnicas Citológicas / Artefatos / Análise de Sequência de DNA / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Brief Bioinform Assunto da revista: BIOLOGIA / INFORMATICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Moldes Genéticos / Modelos Estatísticos / Técnicas Citológicas / Artefatos / Análise de Sequência de DNA / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Brief Bioinform Assunto da revista: BIOLOGIA / INFORMATICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca