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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
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
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… unlike some illnesses, which are determined by a single gene, ADHD is not easily pinned down. Many common but subtle …
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 …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… between diabetes and previously unlinked ZRANB3 gene. … National Institute of Health researchers have … confirmed known genomic variants and identified a novel gene ZRANB3 , which may influence susceptibility to the … ‘knockout’). They also used biological tools to reduce the expression of the ZRANB3 gene in different zebrafish. In both …
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
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis. … In a sun-lit … after Jojo attended the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … … disorder caused by alterations in the DNA of a single gene, the GLB1 gene. The GLB1 gene makes an important enzyme …
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 …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… Project covers about 99 percent of the human genome's gene-containing regions, and it has been sequenced to an … 30,000 STSs 52,000 STSs October 1998 DNA Sequence 95% of gene-containing part of human sequence finished to 99.99% … Human Genome Sequencing, Long-range Planning, Gene Expression, Sequence Variations, Phenotypes, Large-scale …
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 …