SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, and -DRB1 genes. Also, it supports both short- and long-read data.

A long-read somatic phasing software for tumor-only sequencing

A tool for loss of heterozygosity (LOH) detection

Detect loss of heterozygosity (LOH) in the MHC in tumor.

HLAkit is a software to detect somatic point mutations and loss of heterozygosity affecting HLA class I genes.

Research framework for POLE c.138del (p.Leu46Phefs*8); Confirmed germline pathogenic frameshift variant clinically consistent w/ PPAP (reported ultra-hypermutated; tumour signature confirmation pending). Mechanistic models, differential diagnosis, therapeutic strategies, and experimental priorities.