GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data

BACKGROUND: NGS technology represents a powerful alternative to the standard Sanger sequencing in the context of clinical setting. The proprietary software that are generally used for variant calling often depend on preset parameters that may not fit in a satisfactory manner for different genes. GAT...

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Detalles Bibliográficos
Autores principales: De Summa, Simona, Malerba, Giovanni, Pinto, Rosamaria, Mori, Antonio, Mijatovic, Vladan, Tommasi, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374681/
https://www.ncbi.nlm.nih.gov/pubmed/28361668
http://dx.doi.org/10.1186/s12859-017-1537-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374681/
https://www.ncbi.nlm.nih.gov/pubmed/28361668
http://dx.doi.org/10.1186/s12859-017-1537-8

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