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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)1
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… prenatally or after birth. Genetic testing is also used to study the genomes of tumors in cancer cases. … Genetic …
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… Yearly, the core has 30-40 transgenic projects to study the mechanisms in human genetic diseases using mouse …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
… Genomics … Genomics refers to the study of the entire genome of an organism whereas genetics … particular gene. … Genomics, Genes, Gene Expression, Human Genome Project … Genomics is a field of biology focused on …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions … describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of … that describes the study of all of a person's genes (the genome), including interactions of those genes with each …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… affected individuals. His research group established the association among a variety of novel NF1 phenotypes, … the NIH principal investigator for a new natural history study on the DICER1 -related pleuropulmonary blastoma (PPB) … 1: genetic, functional and clinical evidence of a novel association. Cancer Research , 69 (18): 7393-7401. 2009. [ …
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 …
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 …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… non-insulin dependent diabetes mellitus (NIDDM) genetics study and in the Integrated Network for Systematic Analysis … T2D. Over 90% of these fall in non-coding regions of the genome, making it difficult to determine what gene has its … colleagues are employing this system in CRISPRi -genome wide gene inhibition experiments to identify critical genes …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… in that trait, thus making it a candidate for additional study. … A candidate gene is a gene whose chromosomal …
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 … M, Singleton AB, Wolfsberg TG, Sidransky E. A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy … zebrafish gene knockout resource for the genome-wide study of gene function. Genome Res , 23(4):727-35. 2013. …