Go Back   SEQanswers > General

Thread Tools
Old 12-01-2008, 07:15 AM   #1
Michael L. Altshuler
Location: Moscow

Join Date: Nov 2007
Posts: 13
Default Singles only

In contrast to multifactorial diseases, the genetic basis of many monogenic disorders is firmly established. It is published, summarized and explained on paper or in highly regarded databases such as a series of reviews in (recently moved to the NCBI bookshelf, ).

There are thousands of recognized single gene (monogenic) disorders. Their cumulative incidence is roughly 1%.

Also, the penetrance is usually very high with single gene disorders. So must be the clinical validity or predictive value of the DNA tests.

The new-generation methods of DNA sequencing or, for that matter, chip genotyping could probably be capable of detecting all single-gene disease mutations listed in the Genetests reviews over single run. Conceivably, in the clinical diagnostics setting the computer-annotated sequence data should be examined and verified by a qualified physician.

Thus, the rapid comprehensive analysis of the genes implicated in single-gene genetic disorders appears to be feasible.

Does anybody do that? If not, what is the matter?
Michael L. Altshuler is offline   Reply With Quote
Old 12-01-2008, 07:23 AM   #2
--Site Admin--
Location: SF Bay Area, CA, USA

Join Date: Oct 2007
Posts: 1,358


This post did not make any sense where you put it, so I've moved it here. If you had another destination in mind, let me know.

ECO is offline   Reply With Quote
Old 12-10-2008, 07:37 AM   #3
Location: Chapel Hill

Join Date: Aug 2008
Posts: 22

Seems like a custom SNP-Chip would pass the FDA/CLIA more readily.
dcfargo is offline   Reply With Quote

Thread Tools

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is On
HTML code is Off

All times are GMT -8. The time now is 11:53 AM.

Powered by vBulletin® Version 3.8.9
Copyright ©2000 - 2019, vBulletin Solutions, Inc.
Single Sign On provided by vBSSO