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Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… to other peoples’ DNA. There are multiple types of variants in human genomes, ranging from small differences to large differences. A very small subset of genomic variants contributes to human health and disease. … of ~6,000,000,000 nucleotides) is ~99.6% identical — or non-variable — compared to a reference human genome sequence. …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
… E, Muenke M. 2020. Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a … craniosynostosis alters the regulatory function of a non-coding element . Am J Med Genet A, 173: 2893-2897. 2017 . …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… gene for Carey-Fineman-Ziter syndrome, and heterozygous non-coding variants (duplications and SNVs) in a neuron-specific GATA2 …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… for squamous cell carcinoma, could be reduced to single variants by taking advantage of breed relatedness. The lab … EA. (2022). Natural and human-driven selection of a single non-coding body size variant in ancient and modern canids. …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2019.
… Website Gazal - Functional Architecture of Low-Frequency Variants Highlights Strength of Negative Selection Across Coding and Non-Coding Annotations Wojcik - Imputation-Aware Tag SNP …
The Genomics Landscape
In the September 1, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., focuses on the NHGRI History of Genomics Program's preservation of historical assets related to the field of genomics as it celebrates its 10th anniversary.
… genomic battleship with CRISPR technologies to uncover non-coding functional elements and their phenotypic effects” and …
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… Concepts 2 Functional Genomics Is Central To NHGRI Goals Non-coding DNA is important for disease and gene regulation • … lie outside of protein- coding regions • Non-coding DNA variants are known to cause human diseases and alter human …
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… • Genetic code – Moderately good at identifying protein- coding regions, but fine structures difficult to predict from … regions ~5% conserved/ ~1.5% protein coding Function of non-coding conserved sequences? Function of non-conserved … lie outside of protein-coding regions • Non-coding DNA variants are known to cause human diseases and alter human …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… to larger datasets that provided new insights about non-coding functional elements in the human genome. When … human genome sequence data for identifying genomic variants of medical relevance. This included the importation …