Bioinformatics@Becker

Updates and Musings from the Bioinformatics team at Becker Medical Library


Are you interested in SAS training?

January 22nd, 2013 by Kristi

Are you interested in SAS training? Free self-paced SAS e-Learning courses are available to WUSM faculty, staff, and students while using SAS on the Research Pod computers in Becker Library. The available e-Learning courses are:

  • SAS(R) Programming Introduction: Basic Concepts
  • SAS(R) Programming 1: Essentials
  • SAS(R) Programming 2: Data Manipulation Techniques
  • SAS(R) Programming 3: Advanced Techniques and Efficiencies
  • SAS(R) SQL 1: Essentials
  • SAS(R) Macro Language 1: Essentials
  • Querying, Reporting, and Analyzing Data Using SAS(R) Enterprise Guide(R)
  • SAS(R) Enterprise Guide(R): ANOVA, Regression, and Logistic Regression
  • Statistics 1: Introduction to ANOVA, Regression, and Logistic Regression

If you are interested in learning more about the free SAS e-Learning courses, please contact Marcy Vana at Becker Library at 314-362-2796 or via email at vanam@wustl.edu.

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Sign up for JMP Genomics training at Washington University in February

January 10th, 2013 by Kristi

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 vanam@wustl.edu or 362-2796.

Session I: Important Features of JMP Genomics 6.0 – Morning: (8:30-11:30)

1. JMP Genomics 6.0: Software Overview and New Features (8:30-9:30 with 5 min break)
http://www.jmp.com/software/stepguides/stepguide_detail.shtml?reglink=70130000001rfvq

  • Navigating in JMP Genomics
  • Basic Processes
  • Output Files
  • Tips and Tricks

2. Importing Genetics Data into JMP Genomics 6.0 (9:30-10:00)
http://www.jmp.com/software/stepguides/stepguide_detail.shtml?reglink=70130000001rmKK

  • Affymetrix and/or Illumina Data
  • Text/PLINK Files

3. Import and Analysis of Next-Generation Sequencing Data with JMP Genomics 6.0 (10:00-11:30)
http://www.jmp.com/software/stepguides/stepguide_detail.shtml?reglink=70130000001rmKF

  • Preferred File Formats
  • BAM and TXT File Importing
  • Filtering, Normalization
  • Quality Control
  • Modeling and Results

Lunch Break (11:30-12:30)

Session II: Advanced Genetic Analysis with JMP Genomics 6.0 Afternoon: (12:30-3:45)

4. Review of File Formats and Ordering (12:30-12:45)
Covered in depth in:
http://www.jmp.com/software/stepguides/stepguide_detail.shtml?reglink=70130000001rfwA

5. Recode Genotypes, Relationship Matrix, PCA for Population Stratification (12:45-1:45 with 5 min break)
http://www.jmp.com/software/stepguides/stepguide_detail.shtml?reglink=70130000001rfw0

6. Annotation Analysis, KEGG Pathways (Aldi Kraja, 1:45-2:15 with 5 min break)

7. Multiple SNP-Trait Association, Pleiotropic Association and Rare-Variant Analysis (2:15-3:45)

  • Refer to Advanced Genetic Analysis Document from the link in (5)

8. Social (3:45-4:00)

  • Time for JMP Genomics team to respond to any other questions after the workshop

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NCBI’s ClinVar

November 9th, 2012 by Kristi

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.

from Intro to ClinVar:

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.

Take a look at ClinVar at NCBI at http://www.ncbi.nlm.nih.gov/clinvar/. NCBI has provides access to helpful information, such as  Nomenclature and a Data Dictionary, ClinVar documents (FTP site), and a ClinVar News and Announcements RSS feed. NCBI also provides links to tools (e.g. Variation Reporter, PubMed Clinical Queries) and related sites (dbGaP, Variation, GeneReviews, and OMIM).

YouTube lecture: NCBI’s ClinVar by Donna Maglott. Delivered at the Characterizing and Displaying Genetic Variants for Clinical Action Workshop, December 1-2, 2011
More: http://www.genome.gov/27546546

Articles of interest:

 

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NCBI Discovery Workshop

November 6th, 2012 by Kristi

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:

  1. Sequences, Genomes and Maps
  2. Proteins, Domains and Structures
  3. NCBI BLAST Services
  4. 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.

Visit the NCBI Educational Resources page for a variety of educational resources, including tutorials, problem sets, online tools, FAQs and documentation.

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Online MetaCore/MetaDrug training – October 1

September 6th, 2012 by Kristi

There will be an online training opportunity for MetaCore and MetaDrug on October 1:

If you can’t make the live sessions or if you prefer to work at your own pace, you can always view their recorded sessions any time.

To learn more about how you can access MetaCore at Washington University through Becker Medical Library, please visit our GeneGo subscription page.

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Impact of NIH Research

June 14th, 2012 by Kristi

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 knowledge that can push research and discovery forward for years to come.

The site also includes news items and a toolbox with online tools, reports, and presentations.

Read more at http://www.nih.gov/about/impact/index.htm.

From the site:

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.

 

 

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Genetics in Primary Care Institute

May 31st, 2012 by Kristi

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.”

Webinars about GPCI

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.

Purpose
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.
  • Building an Accurate Family History, Constructing a Pedigree—An Overview for Primary Care. Presented by Emily Chen, MD, PhD, FAAP, FACMG and Bob Saul, MD, FAAP, FACMG on April 26, 2012.

(read more about GPCI)

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GEO2R tool from NCBI

April 25th, 2012 by Kristi

From the site:

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.

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Rare Disease Day

February 29th, 2012 by Kristi

Today is Rare Disease Day – an opportunity to improve awareness of rare diseases and improve support of research and support efforts for patients and their families.

From NIH News:

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.

The NIH is hosting Rare Disease Day activities onsite. These activities include recognition of rare disease activities within different agencies and advocacy groups as well as presentations about new technologies.

Suggested Resources:

Also announced today at NIH is the Genetic Testing Registry (GTR) online tool which will be a useful resource for a variety of people and purposes.

From the press release:

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.

Video tutorials are available on how to use GTR at GTR Overview and Searching & How to Locate a Genetic Test in Under Three Minutes. You can visit the tool directly at http://www.ncbi.nlm.nih.gov/gtr/.

 

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NCBI and IPv6

February 21st, 2012 by Kristi

From NCBI:

NCBI now supports IPv6 (beta) for data downloads at http://bit.ly/xiQAsj. More information at  http://1.usa.gov/x655AL .

Please note that NCBI will be taking part in the World IPv6 Launch (http://www.worldipv6launch.org/). On that day (currently anticipated as June 6, 2012), we plan to add IPv6 service to our main FTP Server (http://bit.ly/yerWAX) and shortly thereafter sunset the use of this FTP6 test address (http://bit.ly/xiQAsj).

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