Can I analyze Illumina Complete Long Reads in Emedgene?

Yes, Emedgene supports the recommended interpretation flow for Illumina Complete Long Reads.

Illumina Complete Long Reads interpretation flow in Emedgene includes:

1. Ingesting combined output of long-read/short-read callers for both SVs and SNVs, along with the long-read BAM files. Short-read callers from VCF (CNV read-depth and STR) can be additionally used starting from DRAGEN 4.2;

2. ICLR calling by the BSSH application;

3. Ingesting VCF and BAM files through the existing BSSH integration;

4. Explainable AI shortlisting of ICLR variants and automated ACMG classification, when relevant.

Current limitations:

• Complex SV variants like inversions and translocations are not yet supported for interpretation.

• ICLR cases must be start from VCF files; Emedgene does not support case accessioning from both VCF and FASTQ sources.