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Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting

Next generation sequencing is transforming clinical medicine and genome research, providing a powerful route to establishing molecular diagnoses for genetic conditions; however, challenges remain given the volume and complexity of genetic variation. A number of methods integrate patient phenotype an...

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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Pengelly, Reuben J., Alom, Thahmina, Zhang, Zijian, Hunt, David, Ennis, Sarah, Collins, Andrew
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5647373/
https://ncbi.nlm.nih.gov/pubmed/29044180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-13841-y
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