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Instructors: Loic Yengo & Joelle Mbatchou

You will find on this website link to lecture slides, exercises including some solutions, and link to the class video recordings.

The official SISG web page can be found here (requires login) – course evaluations and certificates of completion are available via this page.

Session Format

The module has 10 sessions, each of 90 minutes. The standard format for a session is approximately:

Please join the module’s Slack channel, where you can ask questions and see real-time updates from the instructors and TAs. Each session builds on previous sessions so you will get maximum benefit by attending every session live and in sequence.

The course schedule is below.

Pre-requisites

Prior to the module, please install working and latest versions of:

All are free software. REGENIE requires MAC/Linux system; if you have a Windows laptop, you can use docker to setup a Linux image (see guide here).

Please be sure to install some necessary R packages with:

install.packages("qqman")
install.packages("GWASTools")
install.packages("bigsnpr")
install.packages("dplyr")
install.packages("tidyr")
install.packages("ggplot2")

Schedule

All times listed below for the schedule are Pacific Standard Time (PST, Seattle time).

Monday, July 25th
Time Session Topic Lecture Exercises Key
8:00am-9:30am 1 Introduction, Case Control Association Testing & Association Testing with Quantitative Traits Intro, Lecture, Video Exercises, Video [.html ], [.Rmd]
10am-11:30am 2 Introduction to the PLINK Software for GWAS & Population Structure Inference Lecture, Video Exercises, Video [.html ], [.Rmd]
12pm-1:30pm 3 GWAS in Samples with Structure & Introduction to the REGENIE Software Lecture, Video Exercises, Video [.html ], [.Rmd]
1:45pm-2:30pm 4 Power, Sample Size & Design Considerations Lecture, Video Exercises, Video [.html ], [.Rmd]
Tuesday, July 26th
Time Session Topic Lecture Exercises Key
8:00am-9:30am 5 Downstream analyses: conditional analyses, colocalization & fine-mapping Intro, Lecture, Video Exercises, Video [.html ], [.Rmd]
10am-11:30am 6 Downstream analyses: gene-based and pathways analysis & polygenic risk scores Lecture, Video Exercises, Video [.html ], [.Rmd]
12pm-1:30pm 7 Rare Variant Analysis: Collapsing Tests, Kernel (Variance Component) Tests and Omnibus Tests Lecture, Video Exercises, Video [.html ], [.Rmd]
1:45pm-2:30pm 8 Emerging issues showcasing ongoing research Lecture, Video Exercises, Video [.html ], [.Rmd]
Wednesday, July 27th
Time Session Topic Lecture Exercises Key
8:00am-9:30am 9 Beyond traditional GWAS: Variance QTL, Interaction Testing, GWAX, Time-to-event, Multi-trait analysis Intro, Lecture, Video Exercises, Video [.html ], [.Rmd]
10am-11am 10 Emerging Issues showcasing ongoing research Lecture, Video Exercises, Video [.html ], [.Rmd]

Datasets

All individual data files below can be downloaded from a zipped folder in Dropbox.

Alternatively, you can download the files from the Github repository (the largest file “Transferrin.bed” can be downloaded from the Dropbox folder above).

Additional resources


sessionInfo()
R version 3.6.1 (2019-07-05)
Platform: x86_64-apple-darwin15.6.0 (64-bit)
Running under: macOS Catalina 10.15.7

Matrix products: default
BLAS:   /Library/Frameworks/R.framework/Versions/3.6/Resources/lib/libRblas.0.dylib
LAPACK: /Library/Frameworks/R.framework/Versions/3.6/Resources/lib/libRlapack.dylib

locale:
[1] en_US.UTF-8/en_US.UTF-8/en_US.UTF-8/C/en_US.UTF-8/en_US.UTF-8

attached base packages:
[1] stats     graphics  grDevices utils     datasets  methods   base     

other attached packages:
[1] dplyr_1.0.8     workflowr_1.7.0

loaded via a namespace (and not attached):
 [1] tidyselect_1.1.1  xfun_0.31         bslib_0.3.1       purrr_0.3.3      
 [5] colorspace_2.0-0  vctrs_0.3.8       generics_0.0.2    htmltools_0.5.2  
 [9] viridisLite_0.3.0 yaml_2.2.1        utf8_1.1.4        rlang_1.0.1      
[13] later_1.3.0       pillar_1.7.0      jquerylib_0.1.4   glue_1.6.1       
[17] lifecycle_1.0.1   stringr_1.4.0     munsell_0.5.0     rvest_1.0.2      
[21] kableExtra_1.3.4  evaluate_0.14     knitr_1.31        callr_3.7.0      
[25] fastmap_1.1.0     httpuv_1.6.5      ps_1.7.0          fansi_0.4.1      
[29] Rcpp_1.0.8.3      promises_1.2.0.1  scales_1.1.1      webshot_0.5.3    
[33] jsonlite_1.7.2    fs_1.5.2          systemfonts_1.0.2 digest_0.6.25    
[37] stringi_1.4.6     processx_3.5.3    getPass_0.2-2     rprojroot_2.0.3  
[41] cli_3.1.1         tools_3.6.1       magrittr_1.5      sass_0.4.0       
[45] tibble_2.1.3      crayon_1.3.4      whisker_0.4       pkgconfig_2.0.3  
[49] ellipsis_0.3.2    xml2_1.3.3        rmarkdown_2.14    svglite_2.1.0    
[53] httr_1.4.3        rstudioapi_0.13   R6_2.4.1          git2r_0.30.1     
[57] compiler_3.6.1