Whole-exome sequencing

[Dan Arking]

Hi Folks,

See below.  If anyone is interested, let me know, and I can arrange for a presentation.

Cheers,

Dan

---------- Forwarded message ----------
From: Brian Dugan <brian...@personalis.com>
Date: Tue, Jul 8, 2014 at 5:18 PM
Subject: Reconnecting
To: Dan Arking <ark...@jhmi.edu>

Hi Dan

 

Its been awhile since we discussed some of your sequencing projects when I was at EdgeBio.  I wanted to reconnect with you and let you know I had joined an testing company called Personalis which has designed the most comprehensive exome technology available today.  In the past I know our discussions where of very targeted sequencing using Haloplex, but I just wanted to give you a brief rundown if you or any of your collaborators would be interested in a short technical presentation.

 

Personalis developed the ACE exome, which is designed to specifically fill in the gaps of over 7000 genes in the genome where most exome would miss anything from 1 to hundreds of bases.  We have “finished” the current medical exome as is possible with sequencing. Most of these biomedical regions are covered to a minimum of 25x, sufficient to make most heterozygote calls.  In addition we have integrated over 40 public and private databases into our bioinformatics pripeline which allows for the highest quality SNV calls from data that we generate or from whole genome sequencing.

If you or any of your team would be available, I would like to give a short presentation with one of our field scientists to anser any questions about how we are able to do this and walk through more technical details.

 

Best Regards,

 

Brian Dugan, MS

Personalis

www.personalis.com

 

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Dan E. Arking, Ph.D.
Associate Professor
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine
733 N. Broadway
Miller Research Building, Room 447
Baltimore, MD 21205
(410) 502-4867 Office
(410) 614-8600 FAX
ark...@jhmi.edu