NGS -next generation sequencing
Undiagnosed diseases program helps patients find answers for mysterious conditions.
Focusing on genetic conditions Or syndromes.
NGS created 100k variants. Analysis for data quality and population metrics to reduce variants to reduce variants to around 500.
This makes it easier to evaluate symptoms.
Comparisons are done against other species. This allows comparison of symptoms to human conditions and mice conditions. This further reduces the causal variants helping to isolate the root symptom(s)
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[tag health, cloud, ONC, opendata, health2stat]
Health & Cloud Technology Consultant
Mark is available for challenging assignments at the intersection of Health and Technology using Big Data, Mobile and Cloud Technologies. If you need help to move, or create, your health applications in the cloud let’s talk.
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I am currently HHS Entrepreneur-in-Residence working on an assignment to update BlueButton for Medicare Beneficiaries.
The views expressed on this blog are my own.
I am also a Patient Engagement Advisor, CTO and Co-Founder to Medyear.com. Medyear is a powerful free tool that helps you collect, organize and securely share health information, however you want. Manage your own health records today.
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