Researchers detected excess genetic risk and/or misclassification when profiling ClinVar variants in ACMG-59 and OrphaNet genes using genome and exome sequences.
The team found that constrained regions of the noncoding genome are up to 52-fold enriched for known pathogenic variants as compared to unconstrained regions.
Researchers have argued that the facial prediction claims are overblown and serve Human Longevity's financial interests in proprietary genomic databases.
