GTR in the Community

  • Arrange an in-person meeting with GTR staff at upcoming professional meetings for hands-on assistance in data submission or using GTR.
  • Join webinars and attend presentations to learn how to use GTR and submit data.
  • Arrange a private Webmeeting for your staff to learn how to register your laboratory and tests.
  • Suggest topics or presentations.
  • Please contact us here.

Table of Contents

Upcoming meetings

2018 ASCO Annual Meeting (American Society of Clinical Oncology)

June 1-5, 2018 at McCormick Place, Chicago, IL

Questions about GTR, ClinVar, MedGen and the Medical Genetics Summaries? Learn about how to use NCBI resources in clinical practice. Get navigation tips and hands-on help with GTR and ClinVar submissions. Provide feedback and sign up for user interviews to help shape NCBI resources to best fit your needs. Meet with Adriana Malheiro, MS, CGC Contact us to schedule a meeting.

PMWC 2018 (Precision Medicine World Conference)

June 6-7, 2018 at Ross School of Business, Ann Arbor, MI

Questions about GTR, ClinVar, MedGen and the Medical Genetics Summaries? Learn about how to use NCBI resources in clinical practice. Get navigation tips and hands-on help with GTR and ClinVar submissions. Provide feedback and sign up for user interviews to help shape NCBI resources to best fit your needs. Meet with Adriana Malheiro, MS, CGC Contact us to schedule a meeting.

Webinars

2018 NCBI minute

NCBI Minute: Using NCBI's MedGen in Clinical Practice*
Presenter:* Adriana Malheiro, MS, CGC
- Webinar
- Handouts

2017 NCBI minute

Medical Genetics Summaries on the NCBI Bookshelf: a pharmacogenomics resource for clinicians
Presenter: *Adriana Malheiro, MS, CGC
- Webinar
- Handouts

2014 NCBI Webinar

NCBI Clinical Resources to find Information about Disease-Linked Variants Presenters: *Brandi Kattman, MS, CGC, Adriana Malheiro, MS, CGC and Melissa Landrum, PhD
- Webinar
- Handouts

2013 National Society of Genetic Counselors Webinar - powerpoint available for viewing

November 20, 2013

Save Yourself Some Time! Utilizing NCBI’s Resources for Phenotype (MedGen), Tests (GTR) and Variation (ClinVar)
Presenters: Brandi Kattman, MS, CGC, Adriana Malheiro, MS, CGC and Melissa Landrum, PhD
Objectives:
- Learn how MedGen can help you locate condition information including disease features and practice guidelines
- Distinguish multiple methods available for testing a specific gene and how to best utilize the GTR
- Find evidence/support for clinical significance of a variant by utilizing the ClinVar resource

Download the powerpoint presentation here:

Link to (member's only) section of NSGC for recording: If you are a member, copy/paste the following to log in to NSGC: http://videos.nsgc.org/Webinars/NSGC%20November%202013%20Webinar.wmv
Link to login page: http://nsgc.org/p/cm/Id/fid=27

Association for Molecular Pathology Webinar - available for viewing

December 11, 2012

Learn how to register with the NIH Genetic Testing Registry and migrate your data from GeneTests

Presenters: Wendy Rubinstein, MD, PhD, Brandi Kattman, MS, and Adriana Malheiro, MS

Host: Rong Mao, MD, ARUP Laboratories, Salt Lake City, UT

AMP has generously made this presentation available to both members and non-members. You can access the webinar and presentation materials from the AMP website at the section labeled 'AMP Publicly Available Webinars' on this page: http://www.amp.org/Webinars/index.cfm.

2012 National Society of Genetic Counselors Webinar - powerpoint available for viewing

January 25, 2012

Navigating the New NIH Genetic Testing Registry

Presenters: Wendy Rubinstein, MD, PhD, Adriana Malheiro, MS, and Brandi Kattman, MS Learn about the genesis of GTR and how to use the resource. Download the powerpoint presentation here.

Past events

ACMG American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

April 10-14, 2018 at the Charlotte Convention Center, Charlotte, NC

NCBI Booth

Questions about GTR, ClinVar, and MedGen? Get navigation tips and hands-on help with GTR and ClinVar submissions. Take handout materials.
Meet with Melissa Landrum, PhD, Adriana Malheiro, MS, and Brandi Kattman, MS

Booth # 1023

Exhibit Hours
Wednesday, April 11: 5:30 pm – 7:30 pm (Opening Reception in the Exhibit Hall)
Thursday, April 12: 9:30 am – 4:30 pm
Friday, April 13: 9:30 am – 1:00 pm
Exhibit Hall floor plan
Contact us to schedule a meeting.

Add Staff presentations

Platform Presentation: MedGen: the best URL you’ve bookmarked this year
Authors: Adriana J Malheiro, M. Landrum, D. Maglott, V. Gorelenkov, J. Lee, M. Benson, W. Shi, C. Chen, S. Chitipiralla, B. Gu, J. Hart, D. Hoffman, W. Jang, K. Karapetyan, K. Katz, C. Liu, Z. Maddipatla, M. Ovetsky, G. Riley, G. Zhou, J. Holmes, K. McDaniel, G. Brown, B. Kattman
Wednesday, April 11, 4:30pm - 4:45pm
Location: 217ABCD
Read abstract here

Poster #266:A New and Improved Variation Display in ClinVar
Authors: Melissa Landrum, Jennifer Lee, Kurt McDaniel, Mark Benson, Garth Brown, Chao Chen, Shanmuga Chitipiralla, Lewis Geer, Baoshan Gu, Lianyi Han, Jennifer Hart, Douglas Hoffman, Alissa Irving, Wonhee Jang, Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Rama Maiti, Adriana Malheiro, Aynex Mercado, Michael Ovetsky, George Riley, Amanjeev Sethi, Guangfeng Song, George Zhou, Donna Maglott, J. Bradley Holmes, Brandi Kattman
Friday, April 13, 10:30am - 12:00pm
Location: Exhibit Hall

Poster #492: Precision medicine for oncologists with Medical Genetics Summaries
Authors: Adriana J Malheiro, Laura C Dean, Marilu A Hoeppner, Brandi L Kattman
Friday, April 13, 10:30am - 12:00pm
Location: Exhibit Hall

AMP 2017 Annual Meeting (Association for Molecular Pathology)

November 16-18, 2017 at the Calvin L. Rampton Salt Palace Convention Center, Salt Lake City, UT

NCBI Booth

Booth #706

Staff presentations

Platform Presentations of Selected Informatics Abstracts

I06 - A New Allele-centric VCF File for Variants in ClinVar Melissa J. Landrum, PhD, National Center for Biotechnology, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA

67th Annual Meeting of the American Society of Human Genetics, ASHG

October 17-21, 2017 at the Orange County Convention Center, Orlando, FL

NCBI Booth

Booth # 852

Staff presentations:

Poster: Improved Access to Variant-centric data in ClinVar

Authors: MJ Landrum, JM Lee, M Benson, G Brown, C Chen, S Chitipiralla, L Geer, L Han, J Hart, D Hoffman, A Irving, W Jang, K Katz, C Liu, Z Maddipatla, A Malheiro, K McDaniel, A Mercado, M Ovetsky, G Riley, A Sethi, G Song, R Villamarin-Salomon, G Zhou, B Holmes, B Kattman, DR Maglott
Abstract #1362F

2017 NSGC AEC (National Society of Genetic Counselors Annual Education Conference)

September 13-16, 2017 at Greater Columbus Convention Center, Columbus, OH

NCBI Booth

Booth #308

Staff presentations:

Educational Breakout Session: Pharmacogenetics for Genetic Counselors Rachel Mills, CGC, Duke University Center for Applied Genomics and Precision Medicine; Jill Davies, MS, CGC, Gene Matters; Tara Schmidlen, MS, LGC, Geisinger Health System; Jennifer Eichmeyer, MS, LCGC, St. Luke’s Mountain States Tumor Institute; Adriana Malheiro, MS, NIH/NLM/NCBI

2017 ASCO Annual Meeting (American Society of Clinical Oncology)

June 2-6, 2017 at McCormick Place, Chicago, IL

NCBI Booth

Booth # 3046

ACMG American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

March 21-25, 2017 at the Phoenix Convention Center, Phoenix, AZ

NCBI Booth

Booth # 531

Staff presentations:

Platform Presentation: In the clinic with Medical Genetics Summaries (MGS)

Authors: Adriana J Malheiro, Laura C Dean, Marilu A Hoeppner, Wendy S Rubinstein Abstract number 30

Poster: MedGen: Harmonizing phenotypic information into an online, computer-readable resource of medical genetics

Authors: Adriana J. Malheiro, Brandi L. Kattman, Donna R. Maglott, Viatcheslav Gorelenkov, Mark Benson, Doug Hoffman, Jennifer Lee, Wenyao Shi, Wendy S. Rubinstein
Abstract number 360

Poster: ClinVar: for medical practitioners and researchers alike

Authors: Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chao Chen, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Brandi Kattman, Kenneth Katz, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George Riley, Amanjeev Sethi, Ray Tully, Ricardo Villamarin, George Zhou, Wendy Rubinstein, Donna Maglott
Abstract number 347

AMP Association for Molecular Pathology 2016 Annual Meeting

November 10-12, 2016 at the Charlotte Convention Center, Charlotte, NC

NCBI Booth

Booth # 421

Medical Genetics Staff presentations

Poster: NIH Medical Genetics Summaries (MGS): Closing the Gap between Pharmacogenetic Testing and Associated Therapies. Adriana Malheiro, MS, CGC

Poster number: G41

66th Annual Meeting of the American Society of Human Genetics, ASHG

October 18-22, 2016 at the Vancouver Convention Center, Vancouver, Canada

NCBI Booth

Booth # 521

Medical Genetics Staff presentations:

Poster: Prioritizing genes for the genetics community using GTR and ClinVar to close the interpretative gap. Adriana Malheiro, MS, CGC

Abstract number 1780/W

National Society of Genetic Counselors 2016 Annual Educational Conference, NSGC AEC

September 28 - October 1, 2016 at the Washington State Convention Center, Seattle, WA

NCBI Booth

Booth # 509

2016 Festival of Genomics, Boston

June 27-29, 2016 at the Boston Convention Center, Boston, MA

Article by Dr. Wendy Rubinstein's article in the May 2016 issue of Front Line Genomics: Thank you Genomic Medicine - Solving the interpretive gap (p. 20-22)

Inaugural Pharma Leaders Meeting

Moderator: Dr. Wendy Rubinstein

ASCO American Society of Clinical Oncology Annual Meeting

June 3-7, 2016 at McCormick Place, Chicago, IL

ESHG / EMPAG 2016, European Human Genetics Conference / European Meeting on Psychosocial Aspects of Genetics

May 21-24, 2016 at CCIB, Barcelona, Spain

Oral Presentation: EMPAG Plenary Session 1: The evolution of Genetic Counseling

Landscape of genetic tests worldwide: a report from the NIH Genetic Testing Registry (GTR)

Presenter: Wendy Rubinstein, MD, PhD, FACP, FACMG

Presentation Number: EPL1.2

ACMG American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

March 8-12, 2016 at the Tampa Convention Center, Tampa, FL

NCBI Booth

Booth # 439

Staff presentations:

Poster: Transparency in Genetic Testing: Data, Trends and Uses

Presenters: Wendy Rubinstein, MD, PhD, Adriana Malheiro, MS, and Brandi Kattman, MS

Abstract number 213

Poster: NIH Medical Genetics Summaries: Optimizing Drug Therapy based on Genotype

Authors: Laura Dean, MD, Marilu Hoeppner, PhD, Adriana Malheiro, MS, Wendy Rubinstein, MD, PhD

Abstract number 359

Poster: A Guide for Submission to ClinVar

Presenters: Melissa Landrum, J. Lee , G. Brown , C. Chen , S. Chitipiralla , B. Gu , J. Hart , D. Hoffman , J. Hoover , W. Jang , K. Karapetyan , K. Katz , M. Ovetsky , G. Riley , A. Sethi , R. Tully , R. Villamarin , D. Maglott Abstract number 484

Semi-Annual Colorado Genetic Counselors Symposium: Specialty Disorders

September 18, 2015 at the Children's Hospital Colorado Conference Center

Staff presentations

Poster: What CAN Your Government Do for You? Free Medical Genetics Resources that Support Clinical Care

Presenter: Brandi Kattman, MS

65th Annual Meeting of the American Society of Human Genetics

October 6-10, 2015 at the Baltimore Convention Center (BCC), Baltimore, MD

NCBI Booth

Booth # 2405

Medical Genetics Staff presentations:

Poster: GTR, ClinicalTrials.gov, and ClinVar: NCBI resources that improve acess to information about research testing.

Presenters: Wendy Rubinstein, MD, PhD

Abstract number 2224F

Poster: Web Tool to Guide Submission to ClinVar.

Presenters: Melissa Landrum, PhD

Abstract number 1912W

National Society of Genetic Counselors 2015 Annual Educational Conference

October 21-24, 2015 at the David L. Lawrence Convention Center, Pittsburgh, PA

NCBI Booth

Booth # 711

AMP Association for Molecular Pathology 2015 Annual Meeting

November 5-7, 2015 at the Austin Convention Center, Austin, Texas

American Society of Clinical Oncology Annual Meeting

May 29 - June 2, 2015 at McCormick Place, Chicago, IL

NIH Genetic Testing Registry / ClinVar / MedGen Exhibit

Booth #24105

ACMG American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

March 24 - 28, 2015 at the Salt Palace Convention Center, Salt Lake City, UT

NCBI Booth

Booth #423

Staff presentations

Poster: Intuitive, Integrated Searching of the NIH Genetic Testing Registry for All GTR Content

Presenters: Wendy Rubinstein, MD, PhD, Adriana Malheiro, MS and Brandi Kattman, MS

Abstract number 347

Poster: ClinVar: More than Germline Variants for Mendelian Disorders Melissa Landrum, PhD

Abstract number 276

AMP Association for Molecular Pathology 2014 Annual Meeting November 12-15, 2013 at the Gaylord National Resort & Convention Center, National Harbor, MD (Washington, DC)

ASHG 64th Annual Meeting of the American Society of Human Genetics

October 18 - 22, 2014 at the San Diego Convention Center, San Diego, California

NCBI Booth

Booth # 1821

Staff presentations:

Poster: The NIH Genetic Testing Registry (GTR): A data mine available through programmatic access

Presenters: Brandi Kattman, MS, Wendy Rubinstein, MD, PhD, and Adriana Malheiro, MS

Abstract number 1523T

Poster: Genetic Test Recipient as a Source of Data: A Novel Approach to Obtaining Genotypic and Phenotypic Data for Input into Genomic Databases

Authors: B.E. Kirkpatrick, E. Riggs, M. Giovanni, R. Green, A. Janze, P. Krautscheid, J. Krier, C.L. Martin, D. Metterville, D. Miller, M. Murray, H. Rehm, D. Riethmaier, W. Rubinstein, B. Smith-Packard, C. Tan, K. Wain, W.A. Faucett on behalf of the Clinical Genome (ClinGen) Resource

Abstract Number: 2415-S

Poster: The ClinGen framework for defining the clinical validity of monogenic disease associations for use in research and clinical analyses

Authors: J.S. Berg, O. Birsoy, A.J. Butte, M. Giovanni, K. Goddard, A. Hamosh, L. Milko, M.F. Murray, E. Riggs, P.N. Robinson, W.S. Rubinstein, A. Santani, A. Scott, T. Sneddon, N. Strande, H.L. Rehm, S.E. Plon, C.L. Martin

Abstract Number: 2597-S

Poster: ClinGen database for curation of clinically relevant genomic variants

Authors: X. Feng, T.P. Sneddon, H. Chen, A.R. Jackson, S. Paithankar, L.J. Babb, C. Bizon, D. Maglott, E.M. Ramos, H.L. Rehm, J.M. Cherry, C. Bustamante, S.E. Plon, A. Milosavljevic

Abstract Number: 1634-T

NSGC National Society of Genetic Counselors Annual Educational Conference

September 17 - 20, 2014 at the Ernest N. Morial Convention Center, New Orleans, LA

ClinVar: The Respository for Interpretations of Clinically-relevant Variations-Adriana Malheiro, MS, CGC

MedGen: A Portal for Medical Genetics Information-Brandi Kattman, MS, CGC

ASCO American Society of Clinical Oncology Annual Meeting

May 30 - June 3, 2014 at McCormick Place, Chicago, IL

The NIH Genetic Testing Registry: Hereditary, pharmacogenetic, and somatic tests for oncology practice-Wendy Rubinstein, MD, PhD

ACMG American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

March 25-29, 2014 at the Music City Center, Nashville, TN

NCBI Booth

Booth # 1105

Staff presentations:

Poster: The NIH Genetic Testing Registry and Next-Generation Sequencing: Data Around Testing, Industry and Policy-Wendy Rubinstein, MD, PhD,Adriana Malheiro, MS, and Brandi Kattman, MS

Abstract number 458

Oral Platform Presentations: Molecular Genetics

Progress in developing curated sequence variant content in NCBI's ClinVar database

Authors: Hegde, Bustamante, Willems, Berg, Das, Ferber, Funke, Greenblatt, Kulkarni, Landrum, Lyon, Maglott, Mao, Metterville, Rehm, Santani, Bale

Abstract number 35

AMP Association for Molecular Pathology 2013 Annual Meeting

November 14-16, 2013 at the Phoenix Convention Center, Phoenix, AZ

The NIH Genetic Testing Registry: A Survey of the Genetic Testing Landscape-Wendy Rubinstein, MD, PhD

Platform presentation

ClinVar: Using Centralized Databases to Interpret Sequence Variants-Donna Maglott, PhD

HGVS Human Genome Variation Society Meeting

October 22, 2013, the Westin Boston Waterfront Hotel

Platform Presentation

ClinVar: current status and future plans-Donna Maglott, Ph.D.

ASHG American Society of Human Genetics Annual Meeting

October 22-26, 2013 at the Boston Convention & Exhibition Center, Boston, MA

Poster presentations

Pharmacogenetics at NCBI-Adriana Malheiro, MS, CGC

Representation of Medical Variation at NCBI-Donna Maglott, PhD

The NIH Genetic Testing Registry: 2013 status report on genetic testing-Wendy Rubinstein, MD, PhD

Workshop (cancelled due due Federal government shutdown)

Navigating Clinical Genomic Resources at NCBI-NCBI staff

NSGC National Society of Genetic Counselors 2013 Annual Education Conference

NOTE: NCBI staff were unable to attend this meeting because of the Federal government shutdown. October 9-12, 2013 at the Anaheim Convention Center, Anaheim, CA

Poster presentations:

Update on the NIH Genetic Testing Registry (GTR)-Adriana Malheiro, MS, CGC

MedGen: Improving Access to Medical Genetics Information at NCBI-Adriana Malheiro, MS, CGC

Concurrent Paper:

ClinVar: A New Resource Providing Unrestricted Access to Genotype-Phenotype Relationships-Adriana Malheiro, MS, CGC

TGCG: The Clinical Genome Conference

June 25-28, 2013 at the Hotel Kabuki, San Francisco, CA

Staff presentations:

The Business of Integration and Implementation

The New NIH Genetic Testing Registry: Bringing Together Science, Medicine and Policy-Wendy Rubinstein, MD, PhD

ACMG American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

March 19-23, 2013 at the Phoenix Convention Center, Phoenix, AZ

Staff presentations:

Ancillary Meeting - The NIH Genetic Testing Registry: Public meeting on transition plan with GeneTests

Moderator: Marc S. Williams, MD, Geisinger Health System, Danville, PA

Speakers and Panelists: Wendy Rubinstein, MD, PhD, Robert Nussbaum, MD, Cathy Fomous, PhD, Brandi Kattman, MS, Adriana Malheiro, MS

Poster: Medical Variation and Phenotypes at NCBI: GTR, MedGen, and ClinVar-Wendy Rubinstein, MD, PhD, Adriana Malheiro, MS, and Brandi Kattman, MS

ASHG American Society of Human Genetics Annual Meeting November 6-10, 2012 at the Moscone Center, San Francisco, CA

Staff presentations:

Getting Ready for the Human Phenome Project

Managing information about human phenotype at NCBI-Donna Maglott, PhD

Poster: NIH Genetic Testing Registry-Wendy Rubinstein, MD, PhD

Poster: NCBI's ClinVar: data archive and tools for human variation of medical interest-Donna Maglott, PhD

NSGC National Society of Genetic Counselors 2012 Annual Education Conference

October 24-27, 2012 at the Hynes Convention Center, Boston, MA

Staff presentations:

Clinical Genetic Resources at NCBI-Brandi Kattman, MS, CGC and Adriana Malheiro, MS

Plenary Session 212, CGC

Open Focus Group-Navigating the GTR Submission Site-Brandi Kattman, MS, CGC and Adriana Malheiro, MS, CGC

AMP Association for Molecular Pathology 2012 Annual Meeting

October 23-27, 2012 at the Long Beach Convention Center, Long Beach, CA

Staff presentations:

CDC/NCBI Clinical Next Generation Sequencing Reference Material Project- Open Forum Meeting at AMP

Demonstration of NCBI's GeT-RM browser and preliminary data analysis-Wendy Rubinstein, MD, PhD

National Foundation for Ectodermal Dysplasias 2012 Conference

October 18-20, 2012 in Charleston, SC

Staff presentations:

Introduction to Bioinformatics-Donna Maglott, PhD and Brandi Kattman, MS, CGC

Bioinformatics Workshop-Donna Maglott, PhD and Brandi Kattman, MS, CGC

Support Center

Last updated: 2018-05-10T19:41:44Z