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Genomics and Medicine

Accomplishments in Genomic Medicine (OLD)

The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.

… The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …

Careers and Training

Postdoctoral Fellowship in Genomics, Social Determinants of Health and Health Inequities

The Health Disparities Unit (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a postdoctoral fellow interested in the study of the intersection of genomics, social determinants of health and health inequities.

… as societal issues of genomics, race and human genetic variation. … The unit studies sickle cell disease as a case … SBRB is to investigate approaches to translating new genomic knowledge and precision medicine into clinical … societal issues of genomics, race and human genetic variation … The Health Disparities Unit (HDU) in the Social …

News Release

Genomic variation causing common autoinflammatory disease may increase resilience to bubonic plague

NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.

… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread … National Institutes of Health, determined that specific genomic variants that cause a disease called familial … ways. For example, they can influence some of the genomic variation that accumulates in human populations over time. …

Staff

Daniel Shriner, Ph.D.

Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.

… as investigation into global patterns of human genetic variation. Applied research includes mapping genetic variants … A. G., Nickle, D. C., and Mullins, J. I. 2004. Pervasive genomic recombination of HIV-1 in vivo . Genetics 167(4): … concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. …

The Genomics Landscape

20 years later, genomicists remember the draft human genome sequence

In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.

… (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are … patients and doctors and for patient health overall. As genomic information about patients becomes more and more … paper and pencil and no computers NIH study shows genomic variation causing common autoinflammatory disease may …

Educational Resources

Haplotype

A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together.

… HapMap Project … A haplotype is a physical grouping of genomic variants (or polymorphisms) that tend to be inherited …

The Genomics Landscape

Chris Gunter joins NHGRI as Senior Advisor for Genomics Engagement

In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.

… associated with engaging the public about genomics and genomic medicine. Her efforts will also include working with … A global look at cancer genomes Notable accomplishments in genomic medicine Genomics Videos Eighty-eighth meeting: … for clinical interpretation of genomic copy-number variation … Genome: Unlocking Life’s Code website unveils new …

About Genomics

Introduction to Genomics

A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.

… it or not, many parts of our daily lives are influenced by genomic information and technologies. Genomics now provides a …

Event

IGVF Consortium Pre-Application Webinar - September 3, 2020

NHGRI is hosting a pre-application webinar on September 3, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).

… : Notice of Pre-Application Webinars for the Impact of Genomic Variation on Function (IGVF) Consortium FOAs (RFA-HG-20-043, … RFA-HG-20-043 : Systematic Characterization of Genomic Variation on Genomic Function and Phenotype (UM1 …

Event

IGVF Consortium Pre-Application Webinar - September 9, 2020

NHGRI is hosting a pre-application webinar on September 9, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).