Workshop Description

High-throughput sequencing technologies have allowed researchers to extract DNA at the individual, population, and species levels. In this workshop, students will learn how to analyze and interpret population-level genetic information with PLINK and R. Students will also be exposed to the literature on the different topics, followed by hands-on exercises and paper discussion.

Workshop Topics

At the end of the workshop, the students will be able to:

  • Describe what a variant calling file (VCF) format is and how to manage those files.
  • Conduct quality assesment of a VCF.
  • Learn about population structure and how to compute it with PLINK.
  • Learn about linkage disequilibrium and how to compute it with PLINK.
  • Learn about basic association testing and genome wide association studies (GWAS).
  • Learn about copy number variants (CNVs) and how to test for common CNVs across indidviduals.
  • Discuss original literature within the subjects.
  • Background lecture (45 minutes)
    • What is a VCF?
    • What is QC, and why is it so important?
  • Break (15 minutes)
  • Hands on exercise (1 hour)
    • VCF Data management (read, recode, reorder, merge, subset, compress data)
    • QC assessement
  • Break (15 minutes)
  • Assignment explanation (15 minutes)
  • Background lecture (45 minutes)
    • What is population structure?
    • What is linkage disequilibrium?
    • How does population structure and LD affect association mapping?
  • Break (15 minutes)
  • Hands on exercise (1 hour)
    • Population stratification detection
    • LD estimation
  • Break (15 minutes)
  • Assignment explanation (15 minutes)
  • Peer review of previous assignment (15 minutes)
  • Background lecture (45 minutes)
    • What is association testing and GWAS?
    • What is a Manhattan plot and a Q-Q plot?
  • Break (15 minutes)
  • Hands-on exercise (1 hour and 30 minutes)
    • Basic association testing
    • GWAS accounting for population structure
  • Break (15 minutes)
  • Assignment explanation (15 minutes)

Technical Requirements

Attendees are required to have a Hoffman2 account. To apply for an account, click here. UCLA participants who lack a faculty sponsor and non-UCLA participants may apply for a temporary Hoffman2 account, requesting sponsorship from Collaboratory Workshops.


Dr. Kelsey Jorgensen is a Postdoctoral Fellow in the Bigham Lab for Anthropological Genomics in the Department of Anthropology. She is particularly interested in research that applies an evolutionary perspective toward genomic advances in personalized medicine, public health, and forensics. Her current research analyzes genomic and transcriptomic data to explore adaptive variation related to high-altitude hypoxia in human populations. In addition, Kelsey has expertise in de novo genome assembly and phylogenetic analysis across other organisms such as insects and mice. She received her M.Sc. in Forensic Anthropology from the University of Edinburgh, and Ph.D. in Anthropology at Wayne State University. Email:



Workshop Details

Prerequisites: Intro to Unix (W10), Intro to R (W3), and basic understatement of genetics
Length: 3 days, 3 hrs per day
Level: Intermediate
Location: Boyer 529
Seats Available: 28

Spring 2024 Dates

May 21, 22, and 23
9:00 AM – 12:00 PM