Functional Genetics Boot Camp: Computational Integration of Genome and Transcriptome Data
July 9, 10:00 am - July 10, 5:00 pm
The Functional Genetics Boot Camp is a two-day intensive boot camp of seminars and hands-on analytical sessions to provide an overview of concepts and data analysis methods for computational integration of genome and transcriptome data to characterize molecular effects of genetic variants.
Summer 2020 dates: Live-stream, online training July 9-10, 2020; 10:00am – 5:00pm EDT
Genetic studies in humans have led to discovery of thousands of loci and variants that associate to diverse traits and diseases. However, especially for variants in the noncoding genome, interpretation of functional effects of these variants has been a challenge. One of the approaches to address this challenge has been large-scale analysis of functional genomics data from human samples.
This two-day intensive workshop will provide a rigorous introduction to concepts and analytical methods to map and characterize molecular effects of genetic variants by integration of large-scale genetic and transcriptome data. Led by world experts in functional genomics, human genetics, and statistical methods development, the workshop will integrate seminar lectures with hands-on computer lab sessions to put concepts into practice. The workshop will focus on genetic effects on gene regulation, and guide the participants not only in analytical methods but also the use of major resource data sets like GTEx.
By the end of the workshop, participants will be familiar with the following topics:
Genetic association to gene expression by eQTL analysis
Allele-specific expression analysis
Basics of processing of population-scale RNA-seq data sets
Integration of GWAS and eQTL data
Genetic effects on other epigenomic and transcriptomic traits
Functional interpretation of rare disease-associated variants
Investigators at all career stages are welcome to attend, and we particularly encourage trainees and early-stage investigators to participate.
PREREQUISITES AND REQUIREMENTS
There are three prerequisites/requirements to attend this training:
1.Each participant must have an introductory background in human genetics and genomics (genetic variants, GWAS, gene expression).
2.Each participant must be familiar with R.
3.Each participant must bring a laptop with R downloaded and installed prior to the first day of the workshop. R is available for free download and installation on Mac, PC, and Linux devices.
If you have any specific questions about R in the context of the Functional Genetics Boot Camp, please email us.
Towfique Raj, PhD, Icahn School of Medicine at Mount Sinai. Dr. Raj is an Assistant Professor at Icahn School of Medicine at Mount Sinai. His research focuses on integration of genomic and functional genomics data to understand molecular mechanisms of Alzheimer’s disease and other neurological diseases.
Training Director: Tuuli Lappalainen, PhD, Columbia University & New York Genome Center. Dr. Lappalainen is an Assistant Professor at the Department of Systems Biology at Columbia University and at the New York Genome Center. Her research focuses on molecular effects of genetic variants by integration of genome and transcriptome data sets.
François Aguet, PhD, Broad Institute. Dr Aguet is a postdoctoral researcher at the Broad Institute. He is a lead analyst of the Genotype Tissue Expression project, and a specialist in processing very large data sets in human genomics.
Yufeng Shen, PhD, Columbia University. Dr Shen is an Assistant Professor at the Department of Systems Biology at Columbia University. He is an expert in computational and statistical methods to study rare disease variation in human genomes.