Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

BACKGROUND: The conventional variant calling of pathogenic alleles in exome and genome sequencing requires the presence of the non-pathogenic alleles as genome references. This hinders the correct identification of variants with minor and/or pathogenic reference alleles warranting additional approac...

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Detalles Bibliográficos
Autores principales: Koko, Mahmoud, Abdallah, Mohammed O. E., Amin, Mutaz, Ibrahim, Muntaser
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769444/
https://www.ncbi.nlm.nih.gov/pubmed/29334895
http://dx.doi.org/10.1186/s12864-018-4433-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769444/
https://www.ncbi.nlm.nih.gov/pubmed/29334895
http://dx.doi.org/10.1186/s12864-018-4433-3

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