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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 …
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 …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
… and qualitative trait variation in the GAW 17 mini-exome sequence data. BMC Proceedings , 5(Suppl 9):S83. 2011. … Wu-Chou YH, Doheny KF, Ling H, Scott AF, Beaty TH. Whole Exome Sequencing of Distant Relatives in Multiplex Families …
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.
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 , …
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 …
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) …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… (CCDG) Website GSP Analysis Centers Website Abul-Husn - Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 … UDN Program Website UDN Gateway Reuter - Yield of whole exome sequencing in undiagnosed patients facing insurance …