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Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer

Next-generation sequencing using exome capture is a common approach used for analysis of familial cancer syndromes. Despite the development of robust computational algorithms, the accrued experience of analyzing exome data sets and published guidelines, the analytical process remains an ad hoc serie...

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Detalles Bibliográficos
Autores principales: Gerhard, Glenn S., Bann, Darrin V., Broach, James, Goldenberg, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584869/
https://www.ncbi.nlm.nih.gov/pubmed/28884020
http://dx.doi.org/10.1038/s41525-017-0011-x