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- Ethical, Legal and Social Implications (ELSI) Research Program7
- 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
MINC
As genomic competencies have been delineated for all nurses, this presented an opportunity to provide support to nurse leaders to become aware of, plan for, and begin to incorporate genomics into practice.
… As genomic competencies have been delineated for all nurses, this presented an opportunity to provide … genomics into practice. … The primary aim of this Method for Introducing a New Competency: Genomics (MINC) into Nursing …
Funding Opportunities
Funding for New and Early-Stage Investigators
… in the field of genomics. NHGRI welcomes applications from new and early-stage investigators through standard routes … strongly encouraged to contact an NHGRI program director for guidance as the applicants develop their research … for grants. This seminar discusses some of the things that a researcher needs to consider as they are putting together a …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… Human Pangenome Reference Consortium has released a high-quality collection of human genome reference … human genome missing because of gaps in the sequence. The new human pangenome reference is more comprehensive and … Post: A new, more diverse human genome offers hope for rare genetic diseases CNN : Scientists have updated the …
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.
… captures significantly more human diversity. … The new pangenome reference is a collection of different genomes from which to compare an … system, the pangenome graph has many possible routes for a sequence to take, represented by the different colors. …
Staff
Dr. Adam Phillippy is head of the Genome Informatics Section and the chief and senior investigator in the Center for Genomics and Data Science Research at NHGRI.
… Dr. Adam Phillippy is the director of the Center for Genomics and Data Science research and head of the Genome … of genome sequencing and comparative genomics. He is a pioneer of single-molecule sequencing for the … over 200 million bases of additional sequence and enabling new studies of genomic function and disease. Dr. Phillippy …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Prabarna Ganguly, Ph.D. … Study used a “search the genome” approach to reveal how mutations in a … the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, … have overlapping symptoms, which often make it difficult for researchers to diagnose the specific inflammatory disease …
Fact Sheet
Genomic data science is a field of study that enables researchers to use powerful computational and statistical methods to decode the functional information hidden in DNA sequences.
… The Big Picture Genomic data science is a field of study that enables researchers to use powerful … methods to decode the functional information hidden in DNA sequences. Estimates predict that genomics research … genomic data science will be a vibrant field of research for many years to come. Performing genomic data science …
Infographic
An infographic that explains why we need a new human pangenome reference.
… genome missing because of gaps in the sequence. Recently, new types of DNA sequencing technologies have helped researchers read longer stretches of DNA at a time, allowing them to fill in missing sequences within … human populations will help ensure that it is beneficial for everyone and that genomics will advance in an equitable …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into … (gLHS) Network aims to identify and advance approaches for integrating genomic information into existing learning …
News Release
NIH submits new policy that requires all NIH-funded investigators who conduct sensitive, health-related research be issued Certificates of Confidentiality.
… 13, 2016, was to strengthen privacy protections law for research participants. The new law specifically requires additional protections for … the National Institutes of Health (NIH) put forth a new policy which requires that all NIH-funded investigators …