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exome
esoma
Last Update: 2014-12-08
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by conducting whole exome sequencing on patient samples, neuromics and eurenomics have identified a number of new genes related to diseases and their variants covered by the projects.
eseguendo l’intero sequenziamento dell'esoma su campioni di pazienti, neuromics e eurenomics hanno individuato una serie di nuovi geni legati alle malattie e le loro varianti.
Last Update: 2018-02-13
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as an integrated platform connecting databases, registries, biobanks, and clinical bioinformatics for rare disease research, rd-connect is developing a global infrastructure for sharing outputs of research projects, starting with the eurenomics project focusing on the causes, diagnostics, biomarkers, and disease models for rare kidney disorders, and the neuromics project that will use next generation whole exome sequencing to increase genetic knowledge of rare neurodegenerative and neuromuscular disorders.
come piattaforma integrata che collega database, registri, biobanche e bioinformatica clinica per la ricerca sulle malattie rare, rd-connect sta sviluppando una infrastruttura globale per la condivisione dei risultati dei progetti di ricerca, a partire dal progetto eurenomics, incentrato sulle cause, la diagnosi, i biomarcatori e i modelli di malattia per le malattie renali rare, e il progetto neuromics che utilizzerà il sequenziamento di prossima generazione per aumentare la conoscenza genetica delle malattie neurodegenerative e neuromuscolari rare.
Last Update: 2018-02-13
Usage Frequency: 1
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