Thanks, Klaas, that would be good and we need to discuss how this process (your technical approach to SNPs and gene discovery) can be applied across the Heartland genetic centers to increase research productivity, collaboration and awareness, as we discussed at ACMG meeting last week. Merlin Merlin G. Butler, MD, PhD, FFACMG Director, Division of Research Professor of Psychiatry, Behavioral Sciences and Pediatrics ABMG Certified Clinical Geneticist and Clinical Cytogeneticist Departments of Psychiatry & Behavioral Sciences and Pediatrics Kansas University Medical Center 3901 Rainbow Boulevard, MS 4015 Kansas City, Kansas 66160 Phone: (913) 588-1873 Fax: (913) 588-1305 E-mail: [log in to unmask] >>> "Wierenga, Klaas J (HSC)" <[log in to unmask]> 4/5/2012 4:37 PM >>> I think we’ll post something on the website within a few weeks. We’re not set up to capture voice. I can send you the slides with notes though for the time being. Klaas From: Communication for the Heartland Regional Genetics Group [mailto:[log in to unmask]] On Behalf Of Merlin Butler Sent: Thursday, April 05, 2012 4:26 PM To: [log in to unmask] Subject: Re: Heartland Webinar: An online SNP array evaluation tool to identify autosomal recessive conditions in the offspring of consanguineous unions I would like to but have a patient scheduled at the same time. Will it be available (stored) so we can review at a different time. Merlin Merlin G. Butler, MD, PhD, FFACMG Director, Division of Research Professor of Psychiatry, Behavioral Sciences and Pediatrics ABMG Certified Clinical Geneticist and Clinical Cytogeneticist Departments of Psychiatry & Behavioral Sciences and Pediatrics Kansas University Medical Center 3901 Rainbow Boulevard, MS 4015 Kansas City, Kansas 66160 Phone: (913) 588-1873 Fax: (913) 588-1305 E-mail: [log in to unmask] >>> "Whitehead, Shona R. (HSC)" <[log in to unmask]> 4/5/2012 12:58 PM >>> There is still time to register! And please share with other genetics colleagues. Shona R. Whitehead Program Coordinator Heartland Genetics and Newborn Screening Collaborative 405-271-8001 ext. 42190 From: Whitehead, Shona R. (HSC) Sent: Tuesday, April 03, 2012 5:43 PM To: [log in to unmask] Subject: Heartland Webinar: An online SNP array evaluation tool to identify autosomal recessive conditions in the offspring of consanguineous unions Greetings from the HRCC! The Heartland Collaborative and the Heartland Clinical Services Work Group invite you to join a webinar presentation this Friday, April 6th at 9:00 am (CDT). Dr Klaas Wierenga will discuss and demonstrate a new online search tool, which he co-developed, for use by clinical geneticists looking for candidate genes and associated disorders within regions of homozygosity (ROH). Registration information is below. Children born into consanguineous or inbred families may be affected with genetic disease somewhat more frequently than children born to unrelated parents. If affected, the disorder tends to be autosomal recessive in inheritance, and may be hard to diagnose. In recent years, the interest in consanguinity has increased due to the advent of new technology, especially the Single Nucleotide Polymorphism (SNP) array. Unlike the oligonucleotide array, the SNP array can detect ROH, allowing the genetics team to zoom in on candidate genes that map to the ROH. We have developed an online search tool, the Genomic Oligoarray and SNP array evaluation tool v1.0 (http://www.ccs.miami.edu/cgi-bin/ROH/ROH_analysis_tool.cgi) that fast tracks the selection of a short-list of candidate genes and associated disorders. This tool is expected to greatly assist the Genetics team in making an accurate diagnosis. Dr Wierenga is a Medical Geneticist and Associate Professor at the University of Oklahoma Health Sciences Center. He also serves as the Program Co-Director of the Heartland Genetics and Newborn Screening Collaborative and as the Program Director of the Medical Genetics Residency Program. Please feel free to share the webinar registration information with any of your colleagues who may be interested in learning about this new online tool. Thanks, Shona Shona R. Whitehead Program Coordinator Heartland Genetics and Newborn Screening Collaborative 405-271-8001 ext. 42190 Heartland Clinical Services Work Group Meeting Join us for a Webinar on April 6 Reserve your Webinar seat now at: https://www4.gotomeeting.com/register/133402223 Dr Klaas Wierenga will present and give a demonstration of the online SNP array evaluation tool that can be used to identify autosomal recessive conditions in the offspring of consanguineous unions. Title:Heartland Clinical Services Work Group Meeting Date:Friday, April 6, 2012 Time:9:00 AM - 10:00 AM CDT After registering you will receive a confirmation email containing information about joining the Webinar. System Requirements PC-based attendees Required: Windows® 7, Vista, XP or 2003 Server Macintosh®-based attendees Required: Mac OS® X 10.5 or newer