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Some medically important genes sit in segmental duplications, regions with a near-identical copy (a paralog) elsewhere in the genome. Short reads struggle to tell the gene apart from its look-alike. Long reads, with specialized analysis, can separate them so variants are assigned to the correct gene. The Paralogs tab surfaces these paralog-resolved calls.
The Paralogs tab does not have a filter drawer.
For genes known to live in segmental duplications, review the paralog-resolved calls on this tab.
Confirm that calls are attributed to the intended gene rather than its paralog.
Classify and add findings to the report.
Phasing determines which variants sit together on the same physical copy of a chromosome (the same haplotype). Long-read data phases variants across long distances, which is what lets the Interpreter resolve compound heterozygotes and attribute calls to the correct paralog. Phase information is shown alongside genotype in the variant tables.
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