Resources
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Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
An automatic implementation of ACMG/ClinGen guidelines for constitutional Copy Number Variants annotation and interpretation
A comparison of eVai, CADD and VVP variant prediction results on the ICR639 hereditary cancer dataset
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
Variant interpretation supporting genetic diagnosis in exome sequencing NGS data: eVai clinical validation