Diploid's booth at ASHG14 in San Diego drawing lots of attention

Last week we presented the Diploid genome interpretation service at the ASHG14 conference in San Diego. Our Diploid booth received many visitors interested in outsourcing their clinical exome and genome interpretation. It's clear that clinical exome sequencing has reached the tipping point for mass adoption. This is an exciting evolution, undoubtedly leading to a significant increase in diagnostic rate and to better, more personalised care. Many medical geneticists, however, noted the major challenges in WES and WGS: making sure IT-infrastructure and staff can handle the huge amount of data generated by NGS. We gave away hundreds of free exome interpretations, allowing these departments to familiarise themselves with outsourcing their clinical genome interpretation to us.

It was a great experience to meet some of our (prospective) clients and to learn from their experiences. We'd like to thank all visitors to our booth for dropping by and sharing valuable feedback.

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1 Comments:

At December 16, 2014 at 4:17 AM , Blogger Tristan Dorsey said...

Well learning new things are a great experience. I have been research on Exome Sequencing and found that exome represents less than 2% of the human genome, but contains 85% of known disease-causing variants, making whole-exome sequencing a cost-effective alternative to whole-genome sequencing. With exome sequencing, you can investigate the protein coding regions of the genome when sequencing an entire genome is not practical or necessary. It can efficiently identify variants across a wide range of applications, including population genetics, genetic disease, and cancer studies. A comprehensive landscape of coding variants could also offer valuable mechanistic insights into phenotypic heterogeneity and genetic epistasis. Thanks

 

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