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About

As genome-wide association studies (GWAS) and their downstream uses become more commonplace in research, medicine, and public health, the GWAS Dictionary aims to provide useful definitions and descriptions for undertaking, understanding, and interpreting GWAS to a wide, interdisciplinary audience—both those new to GWAS and those who are experienced in its use but who want to remain up to date. The entries are my selection of terms and topics—useful and growing, but not an attempt to be exhaustive or authoritative over the whole field.

The GWAS Dictionary grew out of the same kind of need that motivates hands-on tutorials: discussions with course and conference attendees, colleagues, and collaborators who wanted a publicly available, easy-to-use reference that complements step-by-step training with clear language on GWAS concepts, methods, and interpretation. For structured, practical walkthroughs—from command-line basics through association testing, visualization, and post-GWAS analyses—we point readers to GWASTutorial, an open tutorial that covers complex trait genomics with exercises and tool-focused chapters. This dictionary is meant to sit alongside such resources as a concise, searchable glossary you can open beside your analysis or reading.

Parts of this site (including draft text and revisions) were assisted by AI tools, with final review and curation by the project maintainer.

How to use this site

  • Use the search bar in the header to jump to a term.
  • Open All Terms for an A–Z style index.
  • Use Topics in the sidebar (or the home page tiles) to browse by coarse area (each term lists topics in ## Topics in terms/<a-z>/*.md; allowed labels are defined in scripts/term_utils.py).
  • GWASTutorial — hands-on GWAS and post-GWAS training (command line, QC, association tests, PRS, fine-mapping, and more).
  • Mendelian randomization dictionary — a similar dictionary-style site for MR terms, which inspired this project.