Challenges

Challenges released:

  • Nonsynonymous variants and targeted assays
    • NAGLU (challenge closed):
      Predict the effect of naturally occurring missense mutations on cellular enzymatic activity
    • NPM-ALK (challenge closed):
      The Nucleophosmin - Anaplastic Lymphoma Kinase fusion protein (NPM-ALK): predict the effect of mutations in the kinase domain on kinase activity and Hsp90 binding affinity
    • SUMO ligase (challenge closed):
      Human SUMO ligase (UBE2l): predict the effects of missense mutations on competitive growth in a high-throughput yeast complementation assay
    • Pyruvate kinase (challenge closed):
      Liver pyruvate kinase (L-PYK): predict the effects of missense mutations on kinase activity and allosteric regulation
  • Regulatory variants and gene expression
    • eQTL causal SNPs (challenge closed):
      Identify regulatory sequences and eQTL-causal variants, and estimate their effects on activation of transcription in a massively parallel reporter assay
  • Research trial exomes, complex disease
    • Crohn's exomes (challenge closed):
      Distinguish between exomes of Crohn's disease patients and healthy individuals
    • Warfarin exomes (challenge closed):
      Estimate patients’ therapeutic warfarin doses from their exome sequence
    • Bipolar exomes (challenge closed):
      Distinguish between exomes of bipolar disorder patients and unaffected individuals
  • Clinical sequences
    • Hopkins clinical panel (challenge closed):
      Predict patients’ clinical descriptions and pathogenic variants from gene panel sequences
    • SickKids clinical genomes (challenge closed):
      Predict patients’ clinical descriptions and pathogenic variants from their genome sequences
  • Personal genomes and trait profiles
    • PGP (challenge closed):
      The Personal genome project (PGP): predict individuals' phenotypes

Updates
12 Aug 2015: page created
4 Sep 2015: SUMO ligase, PGP, eQTL-causal SNPs challenges released
23 Oct 2015: challenges grouped by category
4 Nov 2015: Bipolar exomes challenge released
11 Nov 2015: Pyruvate kinase challenge released
18 Nov 2015: Hopkins clinical panel challenge released
17 Dec 2015: Bipolar exomes challenge close date extended to 25 Jan 2015
23 Dec 2015: SickKids clinical genomes challenge released