MSI, Ploidy & Mutational Burden

Annotation of the cell models obtained through genomic analysis.


Microsatellite Instability

MSI estimation was performed using MSIsensor-pro. Samples with an MSI score >=7 were marked as MSI and remaining samples as MSS.

  • MSI: Microsatellite Instable
  • MSS: Microsatellite Stable


Ploidy

Multiple ploidy estimates are provided based on the underlying data source.

Ploidy (WES)

Determined using PureCN as a component of the Copy Number Dataset.

Ploidy (WGS)

Determined using Purple as a component of the Copy Number Dataset.

Ploidy (SNP6)

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: