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Yes. The webinar was more about detection and that because there are so many, and most have few people with them, it is really hard to find biomarkers to detect, so even if someone comes with a set of symptoms that match, it can be hard to be certain. They also talked about gene sequencing...

This is interesting, I just watched a Webinar on "Analysis of RNASeq from >5000 individuals in the 100000 genomes project identifies new potential diafnoses for patients with rare disease" a couple of weeks ago. The figure they gave was there are at least 6000 of them and about 1 in 17 people...