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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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Vydáno v:Genome Med
Hlavní autoři: Steward, Charles A., Parker, Alasdair P. J., Minassian, Berge A., Sisodiya, Sanjay M., Frankish, Adam, Harrow, Jennifer
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5448149/
https://ncbi.nlm.nih.gov/pubmed/28558813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0441-1
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