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- Developmental Genotype-Tissue Expression (dGTEx)1
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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 …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… Nature , offer insights into embryonic development, gene regulation and other biological processes vital to … Of DNA Elements (modENCODE) Consortium studied how gene expression patterns and regulatory proteins that help …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, … that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel … The researchers found that harmful variants in the CECR1 gene impede production of a protein vital to the integrity of …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… inherited, and typically caused by a mutation in a single gene. So far, researchers have identified the genomic causes … the program's progress and the breadth of Mendelian gene discovery to date. The authors also ruminated on the … disease. "Knowing that there is a relationship between a gene and a disease has enabled us to probe the development …
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 …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… They found that Rohith had a mutation in both copies of a gene involved in a process that affects protein function …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs. … Event …
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 …
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… of California, San Francisco Spatial multiomic mapping of gene function with CRISPRoff UM1 HG012660 Data Resource and … Hutchinson Cancer Center Statistical Methods for Inferring Gene-Phenotype Associations Using Omic Data from Gene Knockout and Human Phenotype Studies U01 HG013177 … The …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a gene editing technology that researchers have harnessed to … SCD mutation by removing and replacing it with a normal gene, while the second approach increases the production of …