Search Results
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 …
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 …
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 a Senior Investigator 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 genome sequencing and comparative genomics. He is a …
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
… 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 …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism … 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 … genomic variant, for example, or the addition or loss of a chromosome. The condition can stem from a genetic error …
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 …