AION requirements
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      1. AION guide
      2. AION - Instructions for Use
      3. AION requirements

      Variant type, genomic regions and sequencing technologies

      AION assumes best practices in secondary analysis. Specifically, we assume that trios and other pedigrees are jointly called.

      Variant types

      AION supports automatic prioritisation of WES and WGS data containing:

      • Single Nucleotid Variants (SNVs) and polymorphisms (SNPs)

      • Insertions or deletions (Indels). There is no explicit threshold for INDELs size as that depends on the secondary analysis pipeline. INDELs cannot be part of a CNV or SV (i.e. they need to contain REF and ALT fields with nucleotid data)

      • Copy Number Variations (CNVs) are supported. Input data must adhere to the VCF requirements page.

      • Structural Variations (SVs) are supported. Input data must adhere to the VCF requirements page.

      Genomic regions

      The supported regions for prioritisation are:

      • Coding regions

      • ±50bp around coding regions

      • Known variants from ClinVar outside of these regions are also included in the analysis

      This means that with WGS data, no deep intronic variants will be automatically prioritised. Instead, the results will cover approximately the same regions for WES and WGS data.

      AION supports gene panel data prioritisation as long as there is data within the supported regions.

      Sequencing technologies

      The following items are important considerations before running cases in AION:

      • AION has been designed and thoroughly validated with Next Generation Sequencing data from short-read platforms, mainly from Illumina technology.

      • Data from long read technologies has not been throughly tested. If you need to run samples with this type of data, we recommend you get in touch so we can quickly troubleshoot any potential issues and make sure the results have high quality.

      • Data from IonTorrent platforms and its evolutions are supported, but have produced many artefacts. Before using it, make sure that the VCF data has been filtered for common artefacts from your setup.