Somatic variant detection using an individual-specific pangenome reference: a case study of a pediatric acute myeloid leukemia patient
Background: Reference bias can cause false or missed somatic variant calls, also in clinically relevant genes. Pangenomes aim to reduce this bias, but evidence of their diagnostic benefit is lacking. We tested how an individual-specific pangenome affects somatic variant calling in bulk samples and single cells. Results: We built an individual-specific pangenome from Nanopore assemblies of normal…
We haven't written up this one. bioRxiv has the full story — the link below goes straight to it.
