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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 …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… the American College of Medical Genetics recommends that variants in 59 genes be returned to people undergoing … has consented to have their exome analyzed for these variants. 2. Consider characteristics about your cohort or an … participant that might complicate the return of secondary variants and be honest about these complications when …
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… and#disease #must#be#studied.#This#is#especially#true#of#non+coding#variation#(the#vast# … majority#of#common#variants#associated#with#disease#lie#outside#of#protein … (if#any)#of#both#coding#and#non+ …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… are now finding previously unidentified genomic variants on the Y chromosome and, by studying these variants, will be better able to establish how the Y … located in regulatory sequences, rather than protein-coding sequences, that are found in patients with HCFP1. …
Secondary Genomics Findings Service
The Secondary Genomics Finding Service (SGFS)
… data for the presence of possible actionable secondary variants in a list of genes that the SGFS will develop, … variant call (.vcf) format and should be restricted to the coding/splice regions of the genes included in the ACMG list … to send the VCF file to henoke.shiferaw@nih.gov. For non-NIH investigators, Globus  is available to any …
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… be unique in its scientific exploration of the universe of non-coding DNA elements and in its emphasis of identifying those … the analysis of disease mapping studies to identify causal variants. This broad scope will best be addressed by …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… if seems like initially unwelcome information Secondary variants will only be present in a small fraction of your … format (.vcf). Please note files must be restricted to the coding/splice regions of the genes included in the ACMG list of genes for return of secondary variants. See below for additional details: VCF (Variant Call …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… Madison Room ) Determining the functional consequences of variants acting individually and in combination Co-Chairs: … ) Accurate prediction of the regulatory consequences of variants, and modeling gene regulation Co-Chairs: Trey Ideker … advance our ability to find and characterize genomic variants, the genomic elements in which they reside or that …
News Release
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 in … Institutes of Health, determined that specific genomic variants that cause a disease called familial Mediterranean … because of this potential advantage, FMF-causing genomic variants have been positively selected for in Mediterranean …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… analyses on GSP data and develop methods to discover variants underlying common, complex, and Mendelian diseases. …