This whole genome sequencing experiment includes samples and analyses from 2 SF3B1-mutant patients, Patient 1 (SF3B1 N626D and K666N) and Patient 2 (SF3B1 K700E and K666N). 

The folder "RawData" contains three subfolders with bam files for each whole genome-sequenced single-cell derived colony and respective germline controls for both visits of Patient 1 and the single visit of Patient 2 (altogether totalling 1.87 TB).

The folder "PreprocessedData" contains two zip files with the raw mutation list for each patient, obtained through analysis with the Genomon2 pipeline. These lists include information on mutation locations (chromosome coordinates and sequence), predicted effect, score, annotation and quality control metrics.

The folder "ProcessedData" contains two zip files with processed mutation lists for each patient after quality control (call_matrix, mutfilter_output files) and phylogenetic analysis (.phy and .ojb files).