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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… Shotgun Sequencing … Shotgun sequencing is a laboratory technique for determining the DNA … DNA fragments that are sequenced individually. A computer program looks for overlaps in the DNA sequences, using them …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… (ARDI): Advancing Genomic Medicine through rare diseases research in Africa Sean David University of Chicago Integrative Analyses of Clinical Pharmacogenetic Data to Prevent Hospital Readmission … University of California, San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… Julie Sapp works as part of a multi-disciplinary research team where she draws upon her genetic counseling … of genomics into medical practice. The diverse clinical research portfolio of the laboratory she works in … clinical demands of the expanding role of genome and exome sequencing and how to maximize the utility of genomic …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… D. Green, M.D., Ph.D. Session 1: Making the case for a clinical genomic informatics research strategy Co-Moderators: Rex L. Chisholm, Ph.D. … Development: Can Implementation of Genetic Information in Clinical Informatics Decision Making Be Different? Presenter: …
Professional Development Programs
Provides exposure to the broader genomics community and experts in the field, with the opportunity to work on a genetics/genomics-related education projects under the mentorship of an ISCC-PEG member.
… College of Medicine, Genetic Counseling Graduate Program, Columbus, OH Richard L. Haspel, M.D., Ph.D. Beth … and Community Involvement Branch National Human Genome Research Institute  Swathi Balaji, BA Master of Science, … Director Cancer Genomics Education Program, Division of Clinical Cancer Genomics, City of Hope National Medical …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) … of genome sequencing as a newborn screening tool, but more research in this area was needed. Thus, the NSIGHT program … methods? Would genome sequencing provide insights about clinical conditions not currently screened for in newborns? …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Further understanding of this risk is a main focus of research of our team. … Ongoing, currently recruiting: … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … of Chicago Mary Relling, PharmD, St. Jude Children’s Research Hospital Jordan Smoller, MD, ScD, Massachusetts … … Funding Opportunities … IGNITE II Resources … Program Staff … The IGNITE PTN supports a network of …
Research at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… Cores … Adjunct Investigators … Scientist Emeriti … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … Research at NHGRI …
15 Ways Genomics Influences Our World
Advances in genomics are reducing the cost of genome sequencing by a million-fold.
… Advances in genomics are reducing the cost of genome sequencing by a million-fold. … Did you know that your genome …  Resources for Educators: Career Profile: Laboratory Research Assistant or Technician  | Video Learn.Genetics - … and Whole Genome Sequencing? The Jackson Laboratory - Clinical Education Resources on Genetics and Genomics Courses …