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The NHGRI Genomic Medicine Working Group (GMWG) is compiling a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov.

The GMWG published the following notable accomplishments:

Search for specific publications by title, author, category and/or by date range.  For an explanation about the categories, see the list of categories and their definitions.


June 03, 2021 - Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing

First Author: Morley T

Category: Pilot Implementation , Other

May 10, 2021 - Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection

First Author: Chung W

Category: Educational Resource

March 25, 2021 - Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

First Author: Martin A

Category: Educational Resource

February 24, 2021 - Expanding evidence leads to new pharmacogenomics payer coverage

First Author: Empey P

Category: Pharmacogenomics

February 22, 2021 - The NCI Genomic Data Commons

First Author: Heath A

Category: Educational Resource

February 15, 2021 - Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

First Author: Weedon MN

Category: Educational Resource

February 09, 2021 - Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

First Author: Van Den Bogaert K

Category: Systematic Implementation

January 20, 2021 - A Population-Based Study of Genes Previously Implicated in Breast Cancer

First Author: Hu C

Category: Oncology , Risk Assessment/Prediction

January 20, 2021 - Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women

First Author: Breast Cancer Association Consortium

Category: Oncology , Risk Assessment/Prediction

January 15, 2021 - Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

First Author: Ekure E

Category: Health Disparities , Variant Classification

January 11, 2021 - African genetic diversity and adaptation inform a precision medicine agenda

First Author: Pereira L

Category: Educational Resource


November 27, 2020 - A state-based approach to genomics for rare disease and population screening

First Author: East K

Category: Pilot Implementation , Sequencing

November 05, 2020 - A Prospective Study of Parental Perception of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

First Author: Cakici J

Category: Systematic Implementation , Sequencing

October 01, 2020 - Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States

First Author: Guzauskas G

Category: Impact/Outcomes , Oncology , Risk Assessment/Prediction

September 07, 2020 - Genomic copy number predicts esophageal cancer years before transformation

First Author: Killcoyne S

Category: Risk Assessment/Prediction

August 20, 2020 - Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

First Author: Fahed A

Category: Risk Assessment/Prediction

August 10, 2020 - The Role of Exome Sequencing in Newborn Screening for Inborn Errors of Metabolism

First Author: Adhikari A

Category: Pilot Implementation , Sequencing

August 07, 2020 - A Combined Risk Score Enhances Prediction of Type 1 Diabetes among Susceptible Children

First Author: Ferrat L

Category: Pilot Implementation , Risk Assessment/Prediction

July 27, 2020 - Population Genetic Screening Efficiently Identifies Carriers of Autosomal Dominant Diseases

First Author: Grzymski JJ

Category: Risk Assessment/Prediction

July 22, 2020 - Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

First Author: Martin CL

Category: Pilot Implementation , Variant Classification

July 02, 2020 - Management of Secondary Genomic Findings

First Author: Katz A

Category: Educational Resource

June 30, 2020 - Clinical outcomes of a genomic screening program for actionable genetic conditions

First Author: Buchanan A

Category: Systematic Implementation , Impact/Outcomes

June 24, 2020 - Whole-genome Sequencing of Patients with Rare Diseases in a National Health System

First Author: Turro E

Category: Systematic Implementation , Sequencing

June 17, 2020 - Frequency of Genomic Secondary Findings among 21,915 eMERGE Network Participants

First Author: Gordon A

Category: Secondary Findings

Last updated: February 19, 2021