Diana Cousminer, PhD, Division of Human Genetics (CHOP); Title: Identifying biomarkers of adverse health in early and late puberty using a computational ‘multiomics’ approach.
Complex diseases are associated with genetic, environmental, and lifestyle factors. Genome-wide association studies, or GWAS, use arrays to identify DNA variants associated with traits or diseases. Professors Struan Grant and Andrew Wells of the Children's Hospital of Philadelphia discuss how they use NGS to map variants to causal genes.
A high-resolution, genome-scale promoter interactome in human T follicular helper cells implicates novel causal genes at SLE GWAS loci. Oral Presentation. May 4-8, 2018, Austin, TX. USA
A high resolution Capture-C promoter 'interactome' implicates causal genes at BMD GWAS loci. Plenary Oral Presentation. May 26 - 29, 2018, Valencia, Spain
A high-resolution, genome-scale promoter 'interactome' in human T follicular helper cells implicates novel effector genes at SLE GWAS loci. Oral Presentation. June 16-19, 2018, Milan, Italy.
CRISPR/Cas9 mediated deletion of a proxy 19.2kb distal to the T2D GWAS-implicated SLC30A8 R325W variant impacts RAD21 and UTP23 gene expression in HepG2 cells. Poster. June 22-26, 2018, Orlando, FL USA
A High Resolution Capture-C Promoter 'Interactome' Implicates Causal Genes at Type 2 Diabetes GWAS Loci. Moderated Poster. June 22-26, 2018, Orlando, FL USA