Scientists from SAS Institute will be at WUSM providing JMP Genomics training on Feb 13th, 2013. Training will be held in FLTC 404 A&B. This will be a hands-on workshop using JMP Genomics, version 6.0. Data will be provided. Please bring your own laptop with JMP Genomics 6.0 installed. Download JMP Genomics 6.0.
Please download and review the PDFs at the links provided below prior to the training. The complete set can be found here.
A detailed agenda for the day of training is included below. Seating is limited, so if you are interested in attending the training workshop please register.
If you have any questions please contact Marcy Vana at Becker Library at firstname.lastname@example.org or 362-2796.
Session I: Important Features of JMP Genomics 6.0 – Morning: (8:30-11:30)
Interested in integrating data from clinical genetic testing and the literature in a single place? ClinVar aggregates information from a variety of sources about sequence variation and its relationship to human health in a single centralized location.
The goal of ClinVar is to provide a freely accessible, public archive of reports of the relationships among human variations and phenotypes along with supporting evidence. By so doing, ClinVar will facilitate access to and communication about the relationships asserted between human variation and observed health status. ClinVar collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in the submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for individual users, laboratories that want to incorporate it in their daily workflow, and organizations that want to incorporate it into their own applications.
Washington University School of Medicine participated as a remote site for the National Center for Biotechnology Information (NCBI) Discovery Workshop held at the University of Michigan in October 2012. The workshop focused on a variety of NCBI resources and consisted of the following four sessions:
Sequences, Genomes and Maps
Proteins, Domains and Structures
NCBI BLAST Services
Human Variation and Disease Genes
Session descriptions, along with the video recordings (kindly provided by the University of Michigan’s Taubman Health Sciences Library), and associated slides and handouts are available HERE.
The National Institutes of Health has a new resource to help people understand the impact of NIH-funded initiatives in areas such as health, the economy, our communities, and important advances in knowledgethat can push research and discovery forward for years to come.
The site also includes news itemsand atoolbox with online tools, reports, and presentations.
NIH is the leading supporter of biomedical research in the world. This research has had a major positive impact on nearly all of our lives by improving human health, fueling the U.S. economy, and creating jobs in our communities.
Due in large measure to NIH research, a baby born in the United States today can expect to live to nearly age 79—about three decades longer than one born in 1900. Not only are we living longer, but our quality of life is improving. Over the last quarter century, the proportion of older people with chronic disabilities has dropped by nearly one-third.
NIH also drives job creation and economic growth. NIH research funding directly supports hundreds of thousands of American jobs and serves as a foundation for the medical innovation sector, which employs 1 million U.S. citizens.
The Genetics in Primary Care Institute (GPCI), a 3 year cooperative agreement between the Health Resources & Services Administration Maternal & Child Health Bureau and the American Academy of Pediatrics was established to address the “need to capitalize on this increased understanding as well as advancements in related technologies, so that quality personalized medicine—providing care that is tailored to the unique genetic traits and needs of the individual—can become the standard of care.”
Speaking of webinars, there’s a fantastic “Time Out for Genetics” monthly instructional webinar series which discusses many valuable topics in this interface between genetics and clinical care. The next webinar is scheduled for May 31 and the series runs through December, 2012.
To provide stakeholders with information for better understanding of the relevance of genetic medicine to primary care. To increase awareness and education regarding the provision of genetic medicine in primary care. To improve health care providers’ understanding of their roles and the roles of others related to the provision of genetic medicine in primary care settings.
Audience Primary care clinicians, pediatricians, pediatric sub-specialists, family physicians, nurse practitioners, genetic counselors, geneticists, and other stakeholders.
Objective The webinars will provide an introduction to the topic; explain the relevance to primary care; and showcase a few case examples of how the topic is relevant to primary care and can be integrated into everyday practice. Participants will be provided with practical take-home messages and strategies for implementation in practice.
Past webinars about GPCI
Integrating Genetics in Primary Care—Why Does it Matter? Presented by Tim Geleske, MD, FAAP and Bruce Korf, MD, PhD, FAAP on March 20, 2012.
Use GEO2R to compare two or more groups of samples in order to identify genes that are differentially expressed across experimental conditions. Results are presented as a table of genes ordered by significance.
A new video on NCBI’s YouTube channel shows how to use GEO2R.
Rare Disease Day was established to raise public awareness about rare diseases, the challenges encountered by those affected, and the importance of research to develop diagnostics and treatments. There are about 7,000 rare diseases identified in the United States affecting an estimated 25 million Americans. About 80 percent of rare diseases are genetic in origin, and it is estimated that about half of all rare diseases affect children. In addition, what researchers learn by studying rare diseases often adds to the basic understanding of common diseases.
In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test’s clinical utility, or how likely the test is to improve patient outcomes.