Chris Saunders

@ctsa.bsky.social

1845 Followers 689 Following

Rare disease and cancer analysis models for sequencing data. Art school survivor. Views my own.

Small variant basepair errors comparison between conventionally mapped reads and portello-mapped reads.
Portello workflow schematic
Comparison of read mappings at HG002 chr4:40,294,825-40,295,700, showing conventional (pbmm2) read mappings (above) and portello mappings (below). The same set of unaligned input reads were input into each mapping process.