Cargando...

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

Abstract 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 wh...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Charles A. Steward, Alasdair P. J. Parker, Berge A. Minassian, Sanjay M. Sisodiya, Adam Frankish, Jennifer Harrow
Formato: Artigo
Idioma:Inglês
Publicado: BMC 2017-05-01
Series:Genome Medicine
Acceso en liña:http://link.springer.com/article/10.1186/s13073-017-0441-1
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!