◆ In this section, mantis-ml's predictions are overlapped with ranked results from cohort-level rare-variant association studies (collapsing analyses) providing refined prioritisation of novel gene candidates based on the overlapping hypergeometric enrichment of top hits in both studies.

Here, we provide the results from the hypergeometric enrichment between mantis-ml (supported by 5 out of 7 classifiers) and collapsing analyses for three diseases:

• ALS¹
• CKD²
• Epilepsy³

for which full gene rankings from published collapsing studies are available.

◆ You can access the WES-validated results for each disease here:

• ¹ Cirulli, E. T. et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science (2015) 347(6229):1436-41.
  doi:10.1126/science.aaa3650
• ² Cameron-Christie, S. et al. Exome-based rare-variant analyses in chronic kidney disease. J. Am. Soc. Nephrol. (2019) 30(6):1109-1122.
  doi: 10.1681/ASN.2018090909
• ³ Allen, A. S. et al. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol. (2017) 16(2):135-143.
  doi:10.1016/S1474-4422(16)30359-3