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News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… Jeannine Mjoseth … Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a … an individual's protein-coding genes. … The UDP is part of the Undiagnosed Diseases Network , which brings together … was published February 1 in Genomics in Medicine . "One of our goals was to improve upon the 25 percent diagnosis …
Staff
Dr. Wilson is the co-chief of and senior investigator in NHGRI's Computational and Statistical Genomics Branch.
… genetics from Indiana University under the direction of P. Michael Conneally, Ph.D., (1980) and did his … genetics with Robert C. Elston, Ph.D., in the Department of Biometry, Louisiana State University Medical Center … remained at Louisiana State University, rising to the rank of tenured Full Professor in 1993. He was recruited to the …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… Consortium has released a high-quality collection of human genome reference sequences, which together comprise … reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that … sequence has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics. … When Kelvin Liu began his doctorate degree in … shorter the DNA sequences, the greater the chances that errors could be introduced into the final assembled sequence. …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Human Genome Research Institute have developed a number of software and analysis tools to help researchers around the … for NextGen sequencing data. BuddySuite A collection of four independent, yet interrelated, command line programs … ad-hoc alternative to replication that can reduce type I errors for GWA studies when appropriate replication data are …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… genomic condition measures disease severity and success of liver transplantation for patients. … Researchers at the National Institutes of Health have developed a breath test that measures how well … “Instead of looking at levels, we decided to measure metabolism itself.” Vast fluctuations in metabolic substances …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of mitochondria, the cells' energy powerhouses. The study, … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, was published December …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… Researchers from the National Institutes of Health-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals … years, researchers have filled in missing gaps and fixed errors in the human genome sequence, but the current genome …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… bleeding problems, developmental delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that … bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… for Research on Genomics and Global Health (CRGGH), part of National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH). Dr. Doumatey received her Bachelor’s and Master’s from the Department of Biochemistry, at the University Claude Bernard, Lyon, …