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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- 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
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… genome was announced by the International Human Genome Sequencing Consortium ( Finishing the euchromatic sequence of … from whole genome shotgun assemblies or obtained by direct sequencing of BAC clones, are submitted and updated … 16 CEPH, 8 Han Chinese, and 8 Japanese) using a PCR-based method. 30,000 single nucleotide polymorphisms (SNPs) were …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… Thomas, Ph.D. , as the new director of the NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural research community, … vision for NISC will further expand the institute’s sequencing resources and propel robust, cutting-edge …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on … for Common Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common … cystic fibrosis and muscular dystrophy. "Advances in DNA sequencing are creating tremendous new opportunities for …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective … Variants, Genetic Risk, Common Disease, Rare Disease, Dna Sequencing, Dna Sequencing Technology … A collaborative …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
Educational Resources
Gene amplification is an increase in the number of copies of a gene sequence.
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
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.
… genomics datasets, focusing on the challenges of genome sequencing and comparative genomics. He is a pioneer of single-molecule sequencing for the reconstruction of complete genomes and is … Analysis Center and pioneered the use of single-molecule sequencing for the reconstruction of complete microbial …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… towards research that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate … … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium , initiated …
Research at NHGRI
NHGRI's research focuses on the understanding of human biology and developing new methods for treating disease.