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Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… (called panel sequencing) or looking at all 20,000 genes (exome or genome sequencing). Because this type of testing … counselor, Natalie Deuitch , at any time. With panel or exome/genome sequencing, we may come across changes in genes … also be referred to a local specialist.  I’ve already had exome/genome sequencing (or my home provider is in the …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
… Yu, Ph.D., University of Washington, Seattle, Returning Exome and Whole Genome Results to Underserved Minority …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… types of data found in whole genome sequencing or whole exome sequencing test reports, created by the Practitioner …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… to see if they develop Parkinson's. And she is doing whole exome sequencing, sequencing the protein-coding regions of …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… 2014 Summary Statement Full Application Returning Exome and Whole Genome Results to Underserved Minority …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… repertoire, with a partial list of methods including whole-exome sequencing , whole-genome sequencing , RNA sequencing , …
Policy Issues
Revisions to the Common Rule modernize, simplify, and enhance oversight for human subjects research in the United States.
… somatic specimen with the intent to generate the genome or exome sequence of that specimen." Informed Consent (.116) …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… as scans for single-nucleotide polymorphisms and whole-exome sequencing. The UDP focuses solely on undiagnosed …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies ACSF3 as the cause of Combined …