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. 2024 Jul 25;116(12):1882–1889. doi: 10.1093/jnci/djae173

Table 1.

Action items for advancing functional analysis of cancer risk variants

Discussion topics
Action item Details Define sufficient characterization Databases and computational tools High-throughput assays Model organisms Diversity in data and assays Collaborations
Develop guidelines and/or standard for sufficient characterization of a genetic locus, based on intended purpose
  • Engage a small group of investigators to mine data and use benchmarks to adjudicate sources of data to identify a set of “truth” loci/variants.

  • Identify consensus intermediate molecular phenotypes.

x x
Develop and provide opportunities for cross-disciplinary training
  • Create opportunities to train across fields such as molecular biology, bioinformatics, epidemiology, genetics, etc.

  • Promote opportunities for both early stage and mid-career investigators.

x x x
Encourage development of standards for in silico data curation and for high throughput assays
  • Develop standards for conducting research and reporting data/results.

  • Work with existing databases to develop standards.

x x x x
Build or connect data portals
  • All information/annotations for a locus should be easily integrated.

  • Include published data from small studies that are not in larger databases.

  • Connect data from various collaborative consortia.

x x x x x
Increase data, resources, and annotations relevant to underrepresented groups
  • Develop best practices for engaging under-represented groups.

  • Ensure that new data generating efforts include all groups/ancestries.

x x x x x
Encourage creation of collaborative groups Develop and encourage data jamborees or other activities focused on a specific project. x x x