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- 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)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… but his accomplishments have already changed the way genomic scientists across the world approach genome … to complete the arduous process of putting the human genomic puzzle together. He excelled at Loyola College. In a … community came together to answer the call of making diversity and inclusion front and center in their work.” …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… This non-invasive blood test, combined with advances in genomic medicine, has many predicting that prenatal whole …
Leadership Initiatives
NHGRI's strategic planning process will establish a 2020 vision for genomics aimed at accelerating scientific and medical breakthroughs.
… Past NHGRI Strategic Plans 2011 : Charting a course for genomic medicine from base pairs to bedside 2003 : A Vision for the Future of Genomic Research 1998 : New Goals for the U.S. Human Genome … Comprehensive Extraction of Biological Information from Genomic Sequence July 23, 2002: Summary of Workshop: …
News Release
NIH researchers have developed and released an innovative software tool, called Verso, to assemble truly complete (i.e., gapless) genome sequences from a variety of species. The software makes the process of assembling complete genome sequences more affordable and accessible.
… DNA sequencing technologies generate different types of genomic puzzle pieces. Some are small and highly detailed, … genome sequences, researchers can better assess human genomic diversity. With only one gapless human genome sequence, …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… and middle-income nations. Advances in human genetics and genomic research now make it possible to prevent, diagnose … healthcare professionals trained in Medical Genetics and Genomic Medicine, available to address this burden. This … is the fact that many of these countries lack training in genomic research and medicine in their graduate and medical …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and … best interests of the child, pediatricians must recommend genomic sequencing when necessary for diagnosis whether or … Pediatricians must disclose the presence of genomic variants that can immediately help guide treatments. …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… and Development Section, and his laboratory, explore the genomic changes that lead to certain blood cancers, such as …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial … researchers have known for more than 20 years that genomic variants in the RUNX1 gene cause the disorder, it is … of European ancestry . This current lack of ancestral diversity may hinder scientists’ and clinicians’ ability to …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… affecting both people and dogs, results in less genetic diversity, making it a little easier for researchers to …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… studies suggest that doctor-patient talks about the genomic underpinnings of obesity can pay off. … There can be … Psychology . Telling overweight women about the likely genomic underpinnings of obesity can also have a positive … for example. The others were told about both lifestyle and genomic factors. "They've heard about family history and they …