Allele balance bias identifies systematic genotyping errors and false disease associations

In recent years, next‐generation sequencing (NGS) has become a cornerstone of clinical genetics and diagnostics. Many clinical applications require high precision, especially if rare events such as somatic mutations in cancer or genetic variants causing rare diseases need to be identified. Although...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Muyas, Francesc, Bosio, Mattia, Puig, Anna, Susak, Hana, Domènech, Laura, Escaramis, Georgia, Zapata, Luis, Demidov, German, Estivill, Xavier, Rabionet, Raquel, Ossowski, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6587442/
https://ncbi.nlm.nih.gov/pubmed/30353964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23674
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