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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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Charles A. Steward, Alasdair P. J. Parker, Berge A. Minassian, Sanjay M. Sisodiya, Adam Frankish, Jennifer Harrow
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2017-05-01
Cyfres:Genome Medicine
Mynediad Ar-lein:http://link.springer.com/article/10.1186/s13073-017-0441-1
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