Search Results
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 ] …
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 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 …
Staff
Dr. Stephanie Morris is a program director in NHGRI's Division of Genome Sciences.
… (CEGS) program, and the Impact of Genomic Variation on Function (IGVF) program. IGVF, launched in 2021, is utilizing … Medicine. Her scientific background is in epigenetics and gene expression and extends to interests in technology … research at NCI in the Laboratory of Receptor Biology and Gene Expression. … Sanford, JA and the Molecular Transducers …
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 …
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.
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 …
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
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 …