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Genome annotation for clinical genomic diagnostics: strengths and weaknesses

The Human Genome Project and advances in DNA sequencing technologies have revolutionized the identification of genetic disorders through the use of clinical exome sequencing. However, in a considerable number of patients, the genetic basis remains unclear. As clinicians begin to consider whole-genom...

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Detalles Bibliográficos
Autores principales:	Steward, Charles A., Parker, Alasdair P. J., Minassian, Berge A., Sisodiya, Sanjay M., Frankish, Adam, Harrow, Jennifer
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448149/ https://www.ncbi.nlm.nih.gov/pubmed/28558813 http://dx.doi.org/10.1186/s13073-017-0441-1

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