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- Developmental Genotype-Tissue Expression (dGTEx)1
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- Impact of Genomic Variation on Function (IGVF) Consortium3
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Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… Collins, M.D., Ph.D. included a section dedicated to the “Gene Sweepstake,” pointing out that the basis of GeneSweep … was scientifically unclear — that is, what exactly is a gene? At a basic level, a gene is considered to be a region of the genome that codes …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… approaches. Dr. Liu discovered that a CBFB-MYH11 fusion gene is the product of chromosome 16 inversion, a common … CBFB-MYH11 for leukemia development, and how this fusion gene works. His group has also made important discoveries … respectively) that form a dimer for DNA binding and gene expression regulation, are frequent targets of such …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 publications …
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… below, the two-part documentary, “Ken Burns Presents The Gene: An Intimate History ,” will debut on PBS stations on … with the new PBS documentary, “Ken Burns Presents The Gene: An Intimate History ,” based on the book by Siddhartha … begins Genomic study points to natural origin of COVID-19 Gene mutation enhances cognitive flexibility in mice, NIH …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… using whole-exome and whole-genome sequencing approaches, expression profiling methodologies (such as RNA-seq), and … with both population scientists and clinicians to define gene profiles that offer predictability in terms of cancer … microarray core that performs association and expression studies. In summary, the scientists of the Cancer …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… of NHGRI's Zebrafish Core. "They can request any single gene or multiple genes in a pathway they want knocked out," … These findings can be specific mutations that cause the gene to lose its normal function, lead to alternate functions … on or off. The next question to ask is: Does the same gene when knocked out in fish mimic the disease in humans? By …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
… grants and contracts related to the Genotype-Tissue Expression (GTEx) Project as well as the newly established … … Simona Volpi, common diseases, Genotype-Tissue Expression Project (GTEx), NIH Common Fund … Dr. Simona Volpi …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … how genetic changes affect the structure and function of gene products leading to human disease. … The Genetic Disease … how genetic changes affect the structure and function of gene products leading to human disease. … Research at NHGRI …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy program led by Dr. Cynthia Tifft. … Her main … investigator and a pediatric neurologist with the GM1 gene therapy trial, she is applying this background by … using DT as part of the assessment of patients from the gene therapy GM1 protocol are strong and encouraging of the …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… 30 years ago. … Researchers from the Genotype-Tissue Expression Project (GTEx) consortium, an NIH Common Fund … a set of studies describing how DNA variation can alter gene expression. The group of papers, published in Science … most comprehensive catalog of genomic variants that affect gene expression produced to date. The studies focus on …