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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… and diseases are caused by genomic variants in a single gene, it is often the case that variants in many genes … Troyer also co-managed the Developmental Genotype-Tissue Expression (dGTEx) program, which is establishing a resource database and tissue bank for studying gene expression during human development. She also served as …
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… Disorders, Convergent Neuroscience, the Genotype-Tissue Expression project, Human Pangenome Reference Consortium, … workforce and advance health equity. … Genomics Research Gene expression profile could enable rapid identification of …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… Coffee Break 11:05 a.m. Keynote Single-cell Epigenomics: Gene Regulation at Unprecedented Resolution Panel Discussion … Opportunity Fund Update: Programmable Eukaryotic Protein Expression with RNA Sensors Omar Abudayyeh, Ph.D. … the Impact of Genomic and Cellular Environments on Gene Expression Noise Clarice Hong Washington University in …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… encyclopedia: linking DNA elements, chromatin state, and gene expression in 3D U01 HG009395 Alkes Price Soumya Raychaudhuri … Brenton Graveley, University of Connecticut Health Center Gene Yeo University of California, San Diego Guo-Cheng Yuan …
News Release
Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas Network have found.
… displayed a high frequency of mutations in the PIK3CA gene, which codes for a component of a protein, PI3-kinase, … Some tumors in the EBV-positive subgroup also showed more gene copies being produced in a chromosomal region that … facilitates cell growth and division, and the increased expression of JAK2 may inappropriately activate cell growth. …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… measures Level 3: Analysis to identify genetic variants, gene expression patterns, or other features of the data set Level …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
… ultimately lead to imprecise and incomplete read-outs of gene expression and transcript diversity. Additionally, this way … modifications can alter the function of an expressed gene or modify how stable it is in the cell. The new ability …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… transporter as a regulator of the CLEAR gene network PB3384 Reuben M Buckley eQTL analysis of canine testes identifies gene expression patterns associated with canine body size. PB1092 …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… on different types of data analyses, such as investigating gene and protein expression profiles, and associating them with clinical and … of the tumor's underlying genome and epigenome on gene and protein expression; and the interplay of tumor and …
Staff
Dr. Mike Pazin is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.
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… Non-Coding Variants (NoVa) program , and the Genomics of Gene Regulation (GGR) Prior to joining NHGRI, Dr. Pazin was a … conducting research on the role of chromatin remodeling in gene regulation, at Massachusetts General Hospital/Harvard … paralog of Mi2 chromatin remodeling enzymes, regulates expression of neuronal genes. Potts RC, Zhang P, Wurster AL, …