Strand Orientation Bias Detector to determine the probability of FFPE sequencing artifacts.
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
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Análise de Sequência de DNA
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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