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Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower … 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. Having an extra number 21 chromosome …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… Since the origin of the human reference in the completion of the International … such as prioritizing new samples, resolving reference errors or ambiguities, establishing quality metrics, … Functional annotation; handling error reports; resolving errors through targeted re-assembly and/or sequencing …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… particular person. This new field combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics. … Pharmacogenomics uses … particular person. This new field combines the science of how drugs work, called pharmacology, with the science of …
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… Dr. Adam Phillippy is the director of the Center for Genomics and Data Science research and head of the Genome Informatics Section at the National Human … and applies computational methods for the analysis of massive genomics datasets, focusing on the challenges of …
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 …
Infographic
An infographic that explains why we need a new human pangenome reference.
… sequence has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only reflected data generated from about 20 people. Most of that first human genome reference sequence was just from …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
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… decades, but the conversation about the science and ethics of genome editing has grown louder due to faster, cheaper, … the popular media tends to focus on the potential use of genome editing in humans, the main application of this technology has been in basic research. Editing the …
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 …
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 …