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Educational Resources
A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address.
… Locus … A locus is the specific physical location of a gene or other DNA sequence on a chromosome, like a genetic street address. … Locus, Allele, DNA Polymorphism, Gene, Chromosome … A locus, as related to genomics, is a physical site or location within a genome (such as a gene or another DNA segment of interest), somewhat like a …
Educational Resources
Mapping is the process of making a representative diagram cataloging the genes and other features of a chromosome and showing their relative locations.
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… NCBI’s publicly available ClinVar database and sharing gene-level interpretations through GenCC. This group works … data sharing. Additionally, this group is focused on gene and variant curation through expert panels within the … the ClinGen actionability curation and gene/variant curation per the ACMG/AMP guidelines, including …
Educational Resources
A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next.
… (CNV) is when the number of copies of a particular gene varies from one individual to the next. … Chromosomes, Disease, DNA, Gene Variation … Copy number variation (abbreviated CNV) … stretches of DNA. Such regions may or may not contain a gene(s). … A copy number variation (CNV) is when the number …
Event
NHGRI is hosting a pre-application webinar on September 3, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).
… Webinars for the Impact of Genomic Variation on Function (IGVF) Consortium FOAs (RFA-HG-20-043, … 5, 2020  RFA-HG-20-044 : Defining Genomic Influence on Gene Network Regulation (U01 Clinical Trial Not Allowed) … :  Single-cell Profiling of Regulatory Element and Gene Activity in Relationship to Genome Function (UM1 …
Event
NHGRI is hosting a pre-application webinar on September 9, 2020 for the Impact of Genomic Variation on Function (IGVF) program funding opportunity announcements (FOAs).
… Webinars for the Impact of Genomic Variation on Function (IGVF) Consortium FOAs (RFA-HG-20-043, … 5, 2020  RFA-HG-20-044 : Defining Genomic Influence on Gene Network Regulation (U01 Clinical Trial Not Allowed) … :  Single-cell Profiling of Regulatory Element and Gene Activity in Relationship to Genome Function (UM1 …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… [ PubMed ] The Human Microbiome Consortium. Structure, Function and Diversity of the Human Microbiome in an Adult …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… of the effects of genomic variation on genome function and phenotype. Prior to joining the National Human … Health Sciences, where he studied mechanisms of gene regulation. Dr. Gilchrist received a B.S. in biology … pervasive effects of Pol II pausing on stimulus-responsive gene networks. Genes Dev , 26:933-44. 2012. [ PubMed ] …
News Release
The skin microbiota plays an intricate role in the human immune system, directing many immune functions and defending against bacterial pathogens.
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.