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- Ethical, Legal and Social Implications (ELSI) Research Program3
- 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
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 … together in varying orders. To study the exact order (or sequence ) of someone's DNA, researchers follow three major … of Genomics on the U.S. Economy Icahn School of Medicine - Whole Genome Sequencing & You YouTube Playlist - Videos …
Educational Resources
Shotgun sequencing is a laboratory technique for determining the DNA sequence of an organism's genome.
… is a laboratory technique for determining the DNA sequence of an organism's genome. … Deoxyribonucleic Acid (DNA), DNA Sequencing, Genome, Human Genome Project … Shotgun sequencing is a …
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… Implications (ELSI) Research Program at the National Human Genome Research Institute, launched in 1990 with the … we started generating massive amounts of human genomic data, there'd be lots of societal factors to consider. Now, … cure auto-immune diseases or permanently change your DNA sequence. From NIH-NHGRI Thanks for the question! This is …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… and Comparative Genomics Branch at the National Human Genome Research Institute of NIH. She earned her Ph.D. from … markers and physical maps to present in-depth analyses of whole genome sequences, population studies have provided the … including the creation of the initial canine reference sequence as well as a classification of dog breeds that …
Educational Resources
DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule.
… is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. … … the general laboratory technique for determining the exact sequence of nucleotides, or bases, in a DNA molecule. The … understanding the function of genes and other parts of the genome. There are now several different methods available for …
Organizational Structure
NHGRI’s Office of Genomic Data Science (OGDS) provides leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science.
… backgrounds to help implement computational genomics and data science materials at their schools! October 2023 … The … This information can help researchers understand genome function and implementing genomic medicine. NHGRI’s … a subcommittee of the National Advisory Council for Human Genome Research (NACHGR). The working group was created in …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… frequent, but much more needs to be done before the use of sequence data becomes routine. Evidence regarding the most … and analyze evidence regarding the clinical utility of genome sequencing; 2) research the critical interactions … and Women's Hospital Robert C. Green Integration of Whole Genome Sequencing into Clinical Medicine Primary care …
Research at NHGRI
NHGRI researchers develop freely available software and analysis tools to help researchers around the world analyze and explore their genomic data.
… Researchers at the National Human Genome Research Institute have developed a number of software … around the world analyze and explore their genomic data. These tools are free and openly accessible to anyone. … … line programs that facilitate each step in the workflow of sequence discovery, curation, alignment, and phylogenetic …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… Phenotypes (dbGaP), model organism databases (e.g., Mouse Genome Informatics and Xenbase ), and cloud repositories … Common Disease Genomics, Centers for Mendelian Genomics, Whole Genome Sequencing in Psychiatric Disorders, Convergent … genomic variants associated with phenotypes in large-scale sequence datasets. NIH is increasingly hosting …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… human genomic studies, including those submitting data to AnVIL and studies with an Alternative Data Sharing … directly from the instrument platform Level 1: Initial sequence reads, the most fundamental form of the data after … to single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data or …