Minds & Genes

Measuring the Impact on NeuroDevelopment of CNV (MIND·CNV) is a tool created to help clinicians in the interpretation of CNVs identified in the clinic.

The initial model was published by Huguet et al. (2018). This updated version 2.0 is based on additional observations performed in 27000 individuals from 8 cohorts.

Briefly summarized, these additive models should be viewed as a translation of gnomAD constraint scores (ExAC v1.0 and gnomAD v.2.1.1) into phenotypic effect sizes. The constraint scores integrated in the models are the pLI (probability of being loss-of-function intolerant) and the LOEUF scores (loss-of-function observed/expected upper bound fraction).

The models provides an estimate of the effect size of deletions and duplications on general intelligence, social responsiveness, risk for autism as well as the probability to be de novo. This tool is designed to predict the effect-size of CNVs, not the symptoms of the individual who carries the CNV. If the symptom severity of the individual is concordant with the effect size of the CNV, the clinician may conclude that the CNV contributes substantially to the clinical phenotype. If symptoms are discordant, the clinician may conclude that additional factors should be investigated. The current models do not apply to sex chromosomes due to the lack of sufficient observations

This tool is evolving with larger datasets and improved models.