Diploid - Supporting Rare Disease Diagnostics
Time 2021-04-21 15:15:56Web Name: Diploid - Supporting Rare Disease Diagnostics
WebSite: http://www.diploid.com
ID:171492
Keywords:
Supporting,Diploid,Rare,Description:
Moon is the fastest decision-support software that, using artificial intelligence, helps genetic labs identify causal variants for rare diseases. More about Moon software Moon has accelerated our diagnostic process. It is not only fast but also very up to date: we diagnosed cases with pathogenic mutations in genes that were just published as disease genes. With Moon, yesterday’s publication is today’s diagnosis. Prof. dr. Frank Baas, MDHead, Laboratory Diagnostic Genome AnalysisLeiden University Medical Center, The Netherlands Moon is a real added value to our diagnostic pipeline for NGS: very user-friendly, performant and up-to-date with the newest data from the recent literature. Prof. dr. Geert Mortier, MDChairman, Department of Medical GeneticsAntwerp University Hospital, Belgium In whole exome and genome sequencing, variant interpretation is a big challenge. Moon can provide the disease-underlying variant(s) with a few clicks in a couple of minutes, even among a large number of whole-genome variants. As a medical geneticist, I really appreciate Moon’s speed and easy HPO-based workflow. Moon helps us to diagnose rare diseases, presenting clinically important variants we should not miss. Dr. Gabor Matyas, PhD, FAMH Medical GeneticsHead, Swiss Foundation for People with Rare DiseasesZentrum für Kardiovaskuläre Genetik und Gendiagnostik, Switzerland Free Moon trial Give Moon a try with your own samples. Click Try now for a web-based demo and a Moon trial account that will allow you to analyse your own WES or WGS data. Try nowTAGS:Supporting Diploid Rare
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