Genotype-Phenotype Data

Main goals:

The Genotype-Phenotype working group aimed to improve the collection and sharing of genotypic and phenotypic data to ensure their interoperability and reproducibility and facilitate genotype-phenotype association studies. To this end, they aimed to define the data and metadata for phenotype-genotype studies using standardized terms (e.g., ontologies) and following the FAIR principles.



The Genotype-Phenotype working group ended in April 2023. They wrote a white paper on current challenges in annotating and integrating large-scale genotype and phenotype data (preprint available here). The white paper reviews data types, experimental platforms and methods for data generation, and available public repositories for raw and processed data per data type, and it provides recommendations for future standards development. The white paper is currently under revision at the Oxford Database journal (submitted in April 2023).



  • Olusola Afuwape
  • Akeem Sikiru
  • Rukayat Balogun
  • Cecilia Deng
  • Elsa Herminia Quezada Rodríguez
  • Irene Cobo Simon
  • Jeffrey Neyhart
  • Jill Wegrzyn
  • Joel Sharbrough
  • Maria Ines Rebollo
  • Melanie Correll
  • Nancy George
  • Nelson Lubanga
  • Rajib Roychowdhury
  • Sook Jung
  • Sushma Naithani
  • Tao-Ho Chang
  • W. John Park
  • Wentao Zhang
  • Sunita Kumari
  • Nick Gladman