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...

Descripción completa

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

Internet

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

Ejemplares similares