Search Results
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… and functional effects and other clinical information. ClinGen investigators are developing standard approaches for … curation efforts. In December 2018, the FDA recognized ClinGen’s  hereditary germline variant curations as a valid … source of accurate human variant interpretation data. ClinGen also aims to improve understanding of variation in …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
…  that they were recognizing NHGRI's Clinical Genome (ClinGen) Resource  under their recent Public Human Genetic … which genes and gene variants are relevant in disease. ClinGen was launched in September 2013 to build an … collection of genomic variant pathogenicity information. ClinGen also develops standards for the classification of …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program is evaluating the clinical … variants for use in precision medicine and research. ClinGen, launched in 2013, is funded by the National Human … and the National Cancer Institute, all part of NIH. "ClinGen is both setting standards and applying those …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… Prabarna Ganguly, Ph.D. … NIH-funded ClinGen panel also validates three genes believed to be … heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically reevaluated the … (NHGRI), part of the National Institutes of Health. ClinGen is an NHGRI-funded resource that defines the clinical …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… Rachael Zisk … Funding will help expand the scale of the ClinGen resource. … The National Institutes of Health (NIH) … over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive … Cancer Institute (NCI) will provide co-funding to support ClinGen’s cancer-related activities. The use of genome …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… is a Project Scientist for the Clinical Genome Resource (ClinGen), a consortium of more than 1,400 individuals from 35 … NHGRI's Division of Genomic Medicine. … Joannella Morales, ClinGen … Joannella Morales is a program director in NHGRI's …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group  and the Polygenic … scores," said Erin Ramos, Ph.D., a program director for ClinGen, deputy director of the NHGRI Division of Genomic … framework. "A renewed emphasis on reporting standards by ClinGen and the Polygenic Score Catalog comes at a crucial …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… medicine and research. NIH's Clinical Genome Resource ( ClinGen ) and ClinVar programs address a major barrier to … Human Genome Research Institute (NHGRI) established ClinGen in 2013 with additional support from the Eunice … Development and the National Cancer Institute. The goal of ClinGen is to bring together clinical and research experts to …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… Ramos is a Project Scientist for Clinical Genome Resource (ClinGen), a consortium of nearly 2,000 clinicians and … access, genome-wide association studies, Clinical Genome (ClinGen) Resource, epidemiology … Dr. Erin M. Ramos is a …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to lead the new NHGRI program. …  The Clinical Genome (ClinGen) Resource is an NHGRI-funded program and the first … disorders for use in precision medicine and research. A ClinGen  expert panel recently reevaluated  the scientific … … New NHGRI intramural precision health research program … ClinGen expert panel curates genes linked to congenital heart …