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News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… 10,000 years ago. Now, the goat has contributed its DNA to a study that presents a new method for high-quality, low-cost genome reconstruction. In addition to the goat genome, this technique will be useful for … highly accurate reference genomes and applied it to the domestic goat-a genome we jokingly call the Greatest …
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.
… in society, and NHGRI remains more committed than ever to facilitating the use of genomics for addressing all threats to human health – infectious or otherwise.  Through various … of the launch of the Human Genome Project in October 2020. To amplify that drumbeat, the NHGRI History of Genomics …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining … a biotechnology startup in downtown Baltimore. According to Liu, the success of Circulomics would not have been … States, but they face serious challenges when it comes to raising money to develop their ideas. Front-end money like …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… ClinGen panel also validates three genes believed to be associated with long QT syndrome … around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart … of the genes to be definitively associated with the most common form of the disease. The work was funded by the …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … person's genome contains between three and four million genomic variants, which are specific changes in DNA sequence. …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… genomes have found that these species have a number of key genomic processes in common, reflecting their shared ancestry. The findings, … gene regulation and other biological processes vital to understanding human biology and disease. … ways in which the three species use protein packaging to compact DNA into the cell nucleus and to regulate genome …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … of the kidneys, and can reduce kidney function and lead to kidney failure. … kidney disease. It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects approximately 400,000 …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … of California, San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma (EXPAND-Asthma) … The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … affect the structure and function of gene products leading to human disease. … contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse systems to … efforts include research aimed at understanding genetic contributions to a number of human diseases, particularly …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … skin rashes, diarrhea, joint pain and overall failure to grow or thrive. … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …