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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… immune system. They will use DNA sequencing to examine the genetic make-up of 2,500 individuals and combine this … for disease-causing variants in the LDLR gene, the leading genetic cause of premature coronary artery disease, and … studies include evaluating the cost-effectiveness of genetic testing, characterizing the genetics of pain and …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… Joshua Michael Akey, Ph.D. Somatic mutations - genetic mutations that are not inherited, but instead occur … in cancer. But how these mutations contribute to genetic variability and disease susceptibility is not well … million Principal Investigator: Manolis Kellis, Ph.D. Most genetic variants linked to disease don't code for proteins, …
Staff
Dr. Alexander Arguello is a program director in the NHGRI Division of Genome Sciences.
… in 2022. His interests involve the relationship between genetic variation and phenotypic variation at various scales … individuals and populations. He believes that nothing in genetic epidemiology makes sense except in the light of …
Staff
Dr. Jennifer Troyer is the director of NHGRI's Division of Extramural Operations.
… CA, Carrington M, Dé The G, Zeng Y, O'Brien. The principal genetic determinants for nasopharyngeal carcinoma in China … Cunningham MW, Roca AL, Troyer JL, Johnson WE, O'Brien SJ. Genetic characterization of feline leukemia virus from …
Staff
Dr. Lisa Helbling Chadwick is a deputy director in Division of Genome Sciences at the National Human Genome Research Institute. ​
… new approaches to identify the causal variant in rare genetic disorders where strategies such as whole exome … LH, Pertz LM, Broman KW, Bartolomei MS, Willard HF. Genetic control of X chromosome inactivation in mice: … , 173(4):2103-10. 2006. Chadwick LH and Willard HF. Genetic and parent-of-origin influences on X chromosome …
Staff
Mr. Ismail Safi is a program specialist in NHGRI's Division of Genome Sciences.
… the Genetics of Rare Disease Consortium (GREGoR), and the Genetic Architecture of Complex Traits project. Before … interest in pharmacogenomics, psychopharmacology, and the genetic basis of psychiatric disorders. Ismail received his …
Staff
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… of COVID-19; and understanding its impact on concerns of genetic determinism and biologization of race using both … Historical Studies at the Intersection of Infectious and Genetic Disease. Journal of Law, Medicine, and Ethics . 2024. …
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.
… Katsanis N, Davis EE, Angrist M. Participant-Partners in Genetic Research: An Exome Study with Families of Children … M, Michie M, Chandrasekharan S. Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and … T, Cook-Deegan R, Ginsburg GS, Simmons LA. Perspectives on genetic and genomic technologies in an academic medical …
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… in pharmacogenomics - which examines how individual genetic makeup affects responses to drugs - have led to labeling changes warning of genetic vulnerabilities to medications. Improvements in DNA … Genomics England will build an infrastructure of 23 genetic testing centers to handle data collection and …
Leadership Initiatives
NHGRI's strategic planning process will establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… States Human Genome Program 1990 : Understanding Our Genetic Inheritance  Past Workshop Planning Reports December 4, 2002:  Summary of Roundtable: Genetic Patenting November 20-22, 2002: Beyond the Beginning: …