What this tool does
MIND·CNV helps clinicians interpret CNVs identified in the clinic by providing an estimate of effect size on general intelligence, social responsiveness, risk for autism, and probability of being de novo.
The initial model was published by Huguet et al. (2018). This updated version 2.0 is based on 27,000 individuals from 8 cohorts.
How it works
These additive models translate gnomAD constraint scores (pLI and LOEUF from gnomAD v2.1.1) into phenotypic effect sizes for deletions and duplications.
The tool predicts CNV effect size, not individual symptom severity. Concordance or discordance between the two guides clinical interpretation.
Important limitations
Current models do not apply to sex chromosomes (allosomes) due to insufficient observations.
This tool is continuously evolving with larger datasets and improved models. Results should be interpreted within the full clinical context.
Run a Prediction
Enter a single CNV manually, or upload a batch file for multiple predictions.
Individual Entry
Enter a single CNV by coordinates
File Upload
Run predictions on one or multiple CNVs
File format requirements
- Tab-separated (.tsv, .txt, .csv or .dat), max 1 MB
- Required columns (case-sensitive):
CHR,START,STOP,TYPE - Chromosomes:
chr1…chr22· Type:DELorDUP - Optional:
Sample.IDcolumn for multiple samples - if absent, a single sample is assumed