HBA

[Paranchai87]

Hi there

is gene_fusion detail in the json file reliable for HBA gene? For which genes among all the paralogozs genes analyzed by paraphase the gene_fusion detail is reliable?

Best
Paranchai

[xiao-chen-xc]

For HBA please check the sv_called field. See https://github.com/PacificBiosciences/paraphase/blob/main/docs/HBA1_HBA2.md

The fusions_called field applies to CYP2D6, GBA, CYP11B1, and the CFH gene cluster. See https://github.com/PacificBiosciences/paraphase/blob/main/docs/json.md#structural-variants