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- Genomics-Enabled Learning Health Systems (gLHS)2
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- Human Genome Reference Program (HGRP)2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… biggest surprise was how organized the repeats are,” said Adam Phillippy, Ph.D., a senior investigator at NHGRI and …
Event
NHGRI will hold a workshop in September 2019 focused on Genomics in Medicine and Health.
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… … Working Group Chairs Description Adult Actionability Adam Buchanan Katrina Goddard Identify those human genes … Consent and Disclosures Recommendations Committee (CADRe) Adam Buchanan Miranda Hallquist Kelly Ormond Develop …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… person can lead to inequities in genomic analyses,” said Adam Phillippy, Ph.D., senior investigator in the …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… newly revealed regions.” According to consortium co-chair Adam Phillippy, Ph.D., whose research group at NHGRI led the …
News Release
A team of NIH-funded researchers have generated the first complete chromosome sequences from non-human primates.
… genes in palindromes is like keeping a backup copy,” said Adam Phillippy, Ph.D., a senior investigator at NHGRI and …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.