Choice of transcripts and software has a large effect on variant annotation

BACKGROUND: Variant annotation is a crucial step in the analysis of genome sequencing data. Functional annotation results can have a strong influence on the ultimate conclusions of disease studies. Incorrect or incomplete annotations can cause researchers both to overlook potentially disease-relevan...

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Detalles Bibliográficos
Autores principales: McCarthy, Davis J, Humburg, Peter, Kanapin, Alexander, Rivas, Manuel A, Gaulton, Kyle, Cazier, Jean-Baptiste, Donnelly, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062061/
https://www.ncbi.nlm.nih.gov/pubmed/24944579
http://dx.doi.org/10.1186/gm543

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