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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… about whether a gene or variant is disease-causing," said Jonathan Berg, M.D., Ph.D., assistant professor of genetics at the … variants, disease risk, Heidi Rehm, genome sequencing, Jonathan Berg … As researchers uncover millions of DNA …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… DNA to Improve and Expand Newborn Screening Cynthia Powell Jonathan Berg University of North Carolina at Chapel Hill NC NEXUS, …
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.
… evidence and clinical assertions of genes and variants. Jonathan S. Berg, University of North Carolina Chapel Hill Katrina … rigorous and ethically responsible Clinical Domain Jonathan Berg Sharon Plon Heidi Rehm Enlist representatives …
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.
… R. Riggs, M.S., CGC Geisinger, Danville, Pennsylvania Jonathan Berg, M.D., Ph.D. University of North Carolina at Chapel …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… Evidence-Generating Research 2 (CSER2) Clinical Sites Jonathan Berg, M.D., Ph.D., University of North Carolina, Chapel Hill …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… and Massachusetts General Hospital, Boston. Dr. Rehm, Jonathan S. Berg, M.D., Ph.D., University of North Carolina at Chapel …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… disorders University of North Carolina, Chapel Hill Jonathan Berg, Christine Rini, Bradford Powell North Carolina Clinical … University of North Carolina, Chapel Hill James Evans, Jonathan Berg and Gail Henderson NC GENES Patients from one …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Gene Function Implementation for an Underserved Population Jonathan S. Berg Laura Vogel Milko Univ of North Carolina Chapel Hill …
File
… in calculating the “number needed” in genomic screening (Jonathan Berg) …
AnVIL
The Data Use Oversight System (DUOS) is a semi-automated study registration and DAR management service informed by the GA4GH DUO standard, which enables the secondary use of human genomics and other controlled-access data in compliance with the informed consent of a study’s participants.
… Officials … GA4GH 11th Plenary Meeting – AnVIL Lawson, Jonathan et al. “ Aligning NIH's existing data use … 20,5 (2022): 429-435. doi:10.1089/bio.2022.0042 Lawson, Jonathan et al. “ Achieving Procedural Parity in Managing … and Innovative Solutions for Sharing Human Genomic Data Jonathan Lawson, Senior Software Product Manager, Broad …