Improving the filtering of false positive single nucleotide variations by combining genomic features with quality metrics

MOTIVATION: Technical errors in sequencing or bioinformatics steps and difficulties in alignment at some genomic sites result in false positive (FP) variants. Filtering based on quality metrics is a common method for detecting FP variants, but setting thresholds to reduce FP rates may reduce the num...

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Detalles Bibliográficos
Autores principales: Eren, Kazım Kıvanç, Çınar, Esra, Karakurt, Hamza U, Özgür, Arzucan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692869/
https://www.ncbi.nlm.nih.gov/pubmed/38019945
http://dx.doi.org/10.1093/bioinformatics/btad694

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10692869/
https://www.ncbi.nlm.nih.gov/pubmed/38019945
http://dx.doi.org/10.1093/bioinformatics/btad694

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