NHGRI logo

The NHGRI Genomic Medicine Working Group (GMWG) compiles 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 selection criteria and categories, see the list of categories and their definitions.

2016

September 15, 2016 - Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

First Author: Hollenbeck D

Category: Systematic Implementation , Pilot Implementation

August 25, 2016 - 70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer

First Author: Cardosa, F

Category: Risk Assessment/Prediction

August 18, 2016 - Genetic Misdiagnoses and the Potential for Health Disparities

First Author: Manrai A

Category: Variant Classification , Health Disparities

July 05, 2016 - Association Between CYP2C19 Loss-of-Function Allele Status and Efficacy of Clopidogrel for Risk Reduction Among Patients With Minor Stroke or Transient Ischemic Attack

First Author: Wang Y

Category: Pharmacogenomics , Impact/Outcomes , Systematic Implementation

July 01, 2016 - Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease

First Author: Gammal R

Category: Systematic Implementation , Pharmacogenomics

June 14, 2016 - Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.

First Author: Manzi, S

Category: Pharmacogenomics , Systematic Implementation , Systematic Implementation

May 25, 2016 - Exome Sequencing and the Management of Neurometabolic Disorders

First Author: Tarailo-Graovac, M

Category: Sequencing

April 07, 2016 - Near real-time monitoring of HIV transmission hotspots from routine HIV genotyping: an implementation case study

First Author: Poon A

Category: Systematic Implementation , Other

March 03, 2016 - Disease–drug database for pharmacogenomic‐based prescribing

First Author: Hussain, S

Category: Pilot Implementation , Pharmacogenomics , Systematic Implementation

January 04, 2016 - Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

First Author: Monroe, G

Category: Sequencing , Systematic Implementation

2015

December 03, 2015 - Molecular diagnostic experience of whole-exome sequencing in adult patients

First Author: Posey, J

Category: Sequencing

November 01, 2015 - Precision Medicine in Breast Cancer Care

First Author: Kurian, A

Category: Risk Assessment/Prediction

September 27, 2015 - Prospective Validation of a 21-Gene Expression Assay in Breast Cancer

First Author: Sparano, J

Category: Risk Assessment/Prediction

May 27, 2015 - ClinGen - the Clinical Genome Resource

First Author: Rehm H

Category: Variant Classification

May 17, 2015 - Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

First Author: Wainwright, C

Category: Pharmacogenomics

April 01, 2015 - Cell-free DNA Analysis for Noninvasive Examination of Trisomy

First Author: Norton, M

Category: Sequencing

Last updated: October 8, 2024