Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

BACKGROUND: In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary “Genome Clinic Task Force” at the University Hospitals of Geneva, which is composed of clinical and molecular g...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Genomics
Egile Nagusiak: Fokstuen, S., Makrythanasis, P., Hammar, E., Guipponi, M., Ranza, E., Varvagiannis, K., Santoni, F. A., Albarca-Aguilera, M., Poleggi, M. E., Couchepin, F., Brockmann, C., Mauron, A., Hurst, S. A., Moret, C., Gehrig, C., Vannier, A., Bevillard, J., Araud, T., Gimelli, S., Stathaki, E., Paoloni-Giacobino, A., Bottani, A., Sloan-Béna, F., Sizonenko, L. D’Amato, Mostafavi, M., Hamamy, H., Nouspikel, T., Blouin, J. L., Antonarakis, S. E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Primary Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4924303/
https://ncbi.nlm.nih.gov/pubmed/27353043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-016-0080-4
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