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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- 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
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced their findings in the …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers … helped define NHGRI's niche: developing general paradigms and approaches, and creating data resources and tools. The … sequence data. With the advent of projects involving large numbers of samples from human subjects, this area is …
News Release
NHGRI-funded CSER investigators and colleagues point to need for greater evidence that DNA sequencing helps patients.
… … In the nearly four years since its launch, the Clinical Sequencing Exploratory Research (CSER) program has made … DNA code - that could contribute to disease; improved the analysis and interpretation of DNA sequencing results; and provided …
Event
On October 29, 2021, NHGRI will host the Future Directions of the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL) workshop to identify gaps, challenges and future opportunities related to NHGRI’s investments in the AnVIL’s cloud-based infrastructure, tools and services.
… Agenda 12:00 - 12:10 p.m. Welcome and Purpose of the Workshop  Valentina Di Francesco, M.S. … AnVIL  Anthony Philippakis, M.D., Ph.D. (Broad Institute) and Michael Schatz, Ph.D. (Johns Hopkins University) Session … of Philadelphia) and Valentina Di Francesco, M.S. (NHGRI) Analysis Tools  Moderators: Marylyn D. Ritchie, Ph.D. …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… With the numerous ongoing key collaborations between ASHG and NHGRI, I look forward to working closely with Amanda in … researchers propose that either these few events have a large impact or the extended duration of neural plasticity in … and a group from Ripple Effect, Inc. — completed a large-scale evaluation of the institute’s Centers of Excellence in …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… is challenging traditional practices for validating DNA sequencing results. The research suggests that newer, faster, … DNA sequencing (NGS) methods are as accurate - and perhaps more accurate - than Sanger sequencing, a … He noted, however, that 234 variants did not make up a large sample size from which to draw conclusions. They next …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Happy New Year to you and yours — and here’s to a 2024 featuring many breakthrough … technologies improve, new methods are required to make large-scale genomic edits. Such technologies would be particularly …
Talking Glossary
Nanopore DNA sequencing is a laboratory technique for determining the exact sequence of nucleotides, or bases, in a DNA molecule.
… Nanopore DNA Sequencing … Nanopore DNA sequencing is a laboratory technique for determining the … to by the first letters of their chemical names: A, T, C and G) encodes the biological information that cells use to …
News Release
NHGRI awards $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, cheaper and more accurate.
… is surely not alone in his astonishment. The field of DNA sequencing is full of ideas that are just crazy enough to … to figure out the correct order of a DNA sequence, and a cell phone-size device that harnesses electric current … $6.7 million in new research grants to develop DNA sequencing technologies that are more sensitive, faster, …
Talking Glossary
The genome reference sequence provides a general framework and is not the DNA sequence of a single person.
… The genome reference sequence provides a general framework and is not the DNA sequence of a single person. … A human … their studies. The scientists responsible for assembling and updating such reference sequences aim to provide the … best possible consensus representations of the sequence and structural diversity found in the human genome among …