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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex … clinical observation, genetic analysis and functional studies. MCIDGB investigators seek to understand the … Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… implement new technologies and bioinformatics tools for genome analysis that are integral to this discovery pipeline. … cancers. This involves using both linkage and genome-wide association studies of families and case-control studies. In …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… heart attack and stroke). Based on previous epidemiology studies, it is anticipated that the prevalence of clinically … proband may also be invited to participate in these G2P studies to further characterize the biological significance … Coordinator National Institutes of Health National Human Genome Research Institute (NHGRI) Genomics of Metabolic, …
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 … predisposition and breed sharing combined with genome-wide association, to find the inherited loci associated with high …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… and retroviral integration sites to the annotation of the genome of the ctenophore Mnemiopsis leidyi . Dr. Wolfsberg … and safety of retroviruses used as vectors in gene therapy studies. More recently, her group has expanded the pipeline … zebrafish gene knockout resource for the genome-wide study of gene function. Genome Res , 23(4):727-35. 2013. …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… is testing performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic … is testing performed on newborn babies to detect a wide variety of disorders. … Educational Resources …
Clinical Research
A study for patients with unexpected genetic results
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… Program, Frank KM, Palmore TN and Segre JA. Whole genome sequencing overrules a suspected case of … Program, Palmore TN, Frank KM and Segre JA. Complete genome sequence of a Klebsiella pneumoniae carrying bla NDM-1 … DK, Frank KM, Segre JA and Palmore TN. Detection and whole genome sequencing of carbapenemase-producing Aeromonas …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… Steven Benowitz … Researchers from The Cancer Genome Atlas (TCGA) Research Network have identified novel … the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both part of the National … to secondhand smoke. In addition to the two lung cancer studies, the TCGA Research Network has generated data and …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically … of the disease. The work was funded by the National Human Genome Research Institute (NHGRI), part of the National … , the peer-reviewed journal of The American Heart Association. … Twenty years ago, The New York Times published …