Browsing by Subject "genetic database"

Now showing items 1-2 of 2

    • Article  

      The cypriot and Iranian National Mutation Frequency Databases. 

      Kleanthous, Marios; Patsalis, Philippos C.; Drousiotou, Anthi; Motazacker, M.; Christodoulou, Kyproula; Cariolou, Marios A.; Baysal, E.; Khrizi, K.; Moghimi, B.; Pourfarzad, F.; van Baal, S.; Constantinou-Deltas, Constantinos D.; Najmabadi, H.; Patrinos, G. P. (2006)
      The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
    • Article  

      DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome 

      Savige, J.; Ars, E.; Cotton, R. G. H.; Crockett, D.; Dagher, H.; Constantinou-Deltas, Constantinos D.; Ding, J.; Flinter, F.; Pont-Kingdon, G.; Smaoui, N.; Torra, R.; Storey, H. (2014)
      X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...