GenIO assists medical doctors in the clinical genomics diagnostic process. GenIO prioritizes the most probable variants causing a rare genetic disease using the genomic and clinical information provided by a medical practitioner.
Load example case: Miller syndrome(Human genetics: Genomes on prescription. Nature, Vol. 478, No. 7367. 5 October 2011)
Load example case: Schinzel-Giedion syndrome(De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics 42, 483–485. 2 May 2010)
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