In the realm of Mendelian disease analysis, where interpreting CNVs can prove challenging due to their inherent complexity, AION emerges as your solution. AION enables faster and more accurate CNV interpretation by incorporating automated ranking, ACMG criteria, and seamless integration of clinical evidence. This empowers you to diagnose a greater number of patients. Results show that 82% of the cases have the causative variants in the top 10 of the ranking, with all causative variants classified as pathogenic.
Streamlined and Swift:
Experience seamless CNV analysis with AION's user-friendly interface. Simply upload your CNV data through VCF files, and witness AION's rapid variant interpretation in under 10 minutes.
Guided Diagnosis, Informed by Knowledge:
AION expedites your diagnosis process with automated ranking and clinical evidence integration. Utilizing ACMG criteria, AION prioritizes variants intelligently, spotlighting the most relevant CNV variants. AION leverages a rich repository of insights from ClinVar, ClinGen, Decipher, gnomAD SV, and DGV to highlight previous interpretations. Analyze impact on affected genes utilizing dosage sensitivity, based on ClinGen and other measurements. See potential disease associations and effortlessly compare shared symptoms. Clinical interpretation of CNVs is challenging and presentation is often in a syndromic form, but AION guides you in understanding the possible manifestations.
Precision through Comprehensive Filters:
Navigate the complex genetic landscape with AION's versatile filters. Tailor your analysis by selecting criteria ranging from CNV type to Quality/Length, and overlap with known variants in many databases. You can also filter by pathogenicity prediction of variants as per ACMG guidelines.
Unlock Resources at Your Fingertips:
Amplify your analysis with AION's integrated literature and resources. Direct access to Mastermind and UCSC empowers your diagnostic journey.
Curious? Watch our brand new demo-video giving you a high-level overview of AION's advanced CNV analysis feature:
Ready to dive even deeper? Get in touch for a detailed demo of AION.
