Search Results
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 …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the inheritance of an extra full or partial copy of chromosome 21 from a parent. This extra chromosomal DNA …
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 number to 350 by mid-2024), the human …
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. … resume was unusual. His previous work painted him as more of an inventor and entrepreneur than an academic. Even before … shorter the DNA sequences, the greater the chances that errors could be introduced into the final assembled sequence. …
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 … new human pangenome reference, a high-quality collection of reference human genome sequences, captures significantly …
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. … bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one … Symptoms of Noonan syndrome may include the following: A …
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, …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism refers to the presence of cells in a person that have a different genome from the … Mosaicism refers to the presence of cells in a person that have a different genome from the … genomic variant, for example, or the addition or loss of a chromosome. The condition can stem from a genetic error …