Search Results
Clinical Research
A study for patients with unexpected genetic results
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… and Comparative Genomics Branch at the National Human Genome Research Institute of NIH. She earned her Ph.D. from … and breed structure with in-depth investigation of the dog genome to identify genes and genomic loci involved in complex … For nearly two decades, Dr. Parker has studied the genome of the dog and what it can tell us about how and where …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… is the most genetically diverse in the world, yet few studies have looked into genomic risk factors for disease in … , is the first to use both dense genotyping and whole-genome sequence data to explore the genomic-variation … have carried out only a modest number of genome-wide association studies, or GWAS, using continental African …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… In a new study, researchers at the National Human Genome Research Institute (NHGRI) have generated the largest … The researchers used whole genome sequencing and genome-wide association studies to identify genomic variants associated … create the largest global catalog of variations in the dog genome …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow … uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… researchers has identified new regions of the human genome that are associated with skin color variation in some … Tanzania and Botswana has shed light on regions of the genome not previously associated with skin color. Hands of … Genetic Disease Research Branch at NIH's National Human Genome Research Institute. "The paper also provides a …