Sunday, April 17, 2016

New DNA Service - Diploid: Diagnosing rare diseases


From their homepage:

Diploid Diagnosed

The ultimate genome interpretation service

Diagnosed is a rare disease diagnostics service unlike any other. Combining our critically acclaimed SNP interpretation platform, with our new CNV analysis pipeline, we are confident that we can provide a genetic diagnosis for rare diseases in the areas of intellectual disability, dysmorphisms, metabolic conditions, blindness and deafness. You don’t have to take our word for it: if our WGS analysis does not return a plausible candidate variant, the analysis will be completely free*.

Monday, April 11, 2016

Less than 4% of sequenced human genome sequences are non-European

Article: New era of genetic research must include more indigenous people, says Keolu Fox Geneticist says trust, technology key to increasing ethnic diversity in human genome project.

Keolu Fox is on a mission to increase ethnic diversity in human genome sequencing.

Fox, an indigenous Hawaiian geneticist, was studying at the University of Washington when he discovered that less than four per cent of human genome sequencing is non-European, with less than one per cent being from indigenous people. 
Human genome sequencing could play a key part in determining how genetics play a role in chronic diseases that disproportionately impact indigenous people, such as diabetes, Fox said.