MSI, Ploidy & Mutational Burden

Annotation of the cell models obtained through genomic analysis.


Microsatellite Instability

Samples were screened using the markers BAT25, BAT26, D5S346, D2S123 and D17S250 and were characterised as MSI if two or more markers showed instability.

MSI: Microsatellite Instable

MSS: Microsatellite Stable


Ploidy

Refers to the ploidy status of the cell model determined by using mean copy-number obtained from PICNIC using the Affymetrix SNP6 data.


Mutational Burden

Mutational burden describes the number of somatic mutations (SNV's/INDEL's) detected in a model relative to the total number of bases sequenced.

Total number of ‘PASS’ somatic variants * 10^6 / Genome Size

This is calculated using the models primary mutation data source, typically WES for cell lines and WGS for organoid models. Genome size is determined as: