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Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease … 6503 participants: challenges of variant classification.  Genome Res , 2015. [In Press]   Lewis KL, Han PK, Hooker GW, …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… Ph.D., a postdoctoral fellow at the National Human Genome Research Institute (NHGRI), part of NIH, and an author of the study. “Only the chimpanzee genome sequence was fairly complete before this, but even … has only become possible in recent years due to new DNA sequencing technologies and analysis methods. These …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… Office of Intramural Research (OIR), the National Human Genome Research Institute (NHGRI), the Deputy Director of … Award Program that is administered by OIR, reduced fee sequencing at the NIH Intramural Sequencing Center, clinical support from NHGRI regarding …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… what types of information to receive from prenatal whole genome sequencing. The study, by researchers at NIH's National Human Genome Research Institute (NHGRI) and the NIH Clinical …
News Release
Experts from The NHGRI Dog Genome Project turned to Reddit to answer questions as part of an "Ask Me Anything".
… Ph.D. … On November 2, 2017, experts from The NHGRI Dog Genome Project turned to Reddit - a social news website and … of an "Ask Me Anything" (AMA). … The goal of The NHGRI Dog Genome Project is to sequence the genomes of 10,000 dogs in … 20 questions on topics that ranged from using genome sequencing to determine dog pedigrees, the most recent, …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… things, Adam Phillippy has helped finally complete a human genome sequence. The researcher talks about his life path to … Ph.D., former scientific director of the National Human Genome Research Institute (NHGRI), who helped recruit … way genomic scientists across the world approach genome sequencing. Relying on his early training as a computer …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… aggressive tumors. … Researchers with the National Human Genome Research Institute (NHGRI) and their collaborators … that fix damage to DNA. The research team used whole genome sequencing, a process that reveals the complete DNA make-up …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Genomics and Therapy Section at NIH's National Human Genome Research Institute (NHGRI). Dr. Bianchi is also the … tested for during pregnancy. New research suggests sequencing all 24 chromosomes to uncover other, rare … . Science Translational Medicine 2017. The National Human Genome Research Institute (NHGRI) is one of the 27 institutes …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National … this issue, researchers accumulated data from 201 previous genome-wide association studies, including about 1.65 million … … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of lipids . Nature , 2021. …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… Metabolic Genetics Branch (MGMGB) at the National Human Genome Research Institute (NHGRI) and corresponding author of … and bioinformatic challenges facing individualized genome sequencing in a clinical research setting. Once they …