A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing

Dramatically expanding our ability for clinical genetic testing for inherited conditions and complex diseases such as cancer, next generation sequencing (NGS) technologies are allowing for rapid interrogation of thousands of genes and identification of millions of variants. Variant annotation, the p...

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Detalles Bibliográficos
Autores principales: Tuteja, Sachleen, Kadri, Sabah, Yap, Kai Lee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577137/
https://www.ncbi.nlm.nih.gov/pubmed/36268089
http://dx.doi.org/10.1016/j.jpi.2022.100130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577137/
https://www.ncbi.nlm.nih.gov/pubmed/36268089
http://dx.doi.org/10.1016/j.jpi.2022.100130

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