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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… de-identified research exome/genome data for the presence of possible actionable secondary variants. Any secondary … Secondary Findings, Genetic Variant, Gene Variant, Gene Variation … This team-based clinical service os provided by …
Educational Resources
Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair.
… (SNPs) … Single nucleotide polymorphisms (SNPs) are a type of polymorphism involving variation of a single base pair. … Base Pair, … polymorphism (abbreviated SNP, pronounced snip) is a genomic variant at a single base position in the DNA. …
Careers and Training
The Health Disparities Unit (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a postdoctoral fellow interested in the study of the intersection of genomics, social determinants of health and health inequities.
… (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is … of disorders from those that have a major public health impact to rare genetic conditions with significant impact on … SBRB is to investigate approaches to translating new genomic knowledge and precision medicine into clinical …
Staff
Dr. Carolyn M. Hutter was the director of the Division of Genome Sciences at the National Human Genome Research Institute.​
… Dr. Carolyn Hutter was the director for the Division of Genome Sciences in the National Human Genome Research … the University of Washington, where her research focused on large-scale consortia work for genome-wide association … Hutter, The Cancer Genome Atlas, genome structure, genome function, Extramural Research Program … Dr. Carolyn M. Hutter …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… his Bachelor's (summa cum laude) from the Department of Microbiology at the University of Maryland, College Park … D. C., Jensen, M. A., and Mullins, J. I. 2003. Potential impact of recombination on sitewise approaches for detecting … A. G., Nickle, D. C., and Mullins, J. I. 2004. Pervasive genomic recombination of HIV-1 in vivo . Genetics 167(4): …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread … be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague. The … ways. For example, they can influence some of the genomic variation that accumulates in human populations over time. …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in … about the selection criteria and categories, see the list of categories and their definitions . … Related Resources … …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… Disorder (ADHD), genetics do make an impact. … ADHD is as heritable as height," said Philip Shaw, … investigator at the Social and Behavioral Research Branch of the National Human Genome Research Institute (NHGRI). But, … with ADHD. Image Credit: Darryl Leja, NHGRI.   "Each variation has a tiny effect in isolation. Adding them all up …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to bring … (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are … paper and pencil and no computers NIH study shows genomic variation causing common autoinflammatory disease may …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… The first such AGBT meeting was held in 2000, when most of the attendees were – in one way or another – busily … associated with engaging the public about genomics and genomic medicine. Her efforts will also include working with the NHGRI Director in assessing the long-term impact of certain NHGRI research, training, and outreach …