Search Results
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 …
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 …
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 …
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… • Intentional search for actionable mutations from exome/genome – Independent of indication for sequencing • … • Intentional search for actionable mutations from exome/genome – Independent of indication for sequencing • … organic acidosis, decompensation, CNS infarcts, coma • Exome identified ACSF3 mutations • ClinSeq ® participant with …
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… to include facial twitches and mild dysarthria • Exome: de novo R418W (c.1252C>T) in ADCY5 • Familial … of adult “actionable” gene-disease pairs • Classify all Exome Variant Server (EVS) SNVs called “Disease Causing” by … 36 (0.8%) 12 (0.5%) Expected Rate of Actionable Variants: Exome Variants Server (EVS) Results by Ancestry Group 626 …
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 …