Can I analyze Illumina Complete Long Reads in Emedgene?

Yes, Emedgene supports the recommended interpretation flow for Illumina Complete Long Reads since version 32.0.

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.