Telomeric Allelic Imbalance (TAI) [28] |
Allelic imbalance at the telomere of the chromosome is due to the propensity for inappropriate end joining in HRD, identified by single nucleotide polymorphism (SNP) genotyping. |
Large Scale Transitions (LST) [29] |
Chromosomal breaks larger than 10 Mb, which arise in HRD cells secondary to erroneous recombination between segments of the chromosome, are identified by single nucleotide polymorphism (SNP) genotyping. |
Loss of Heterozygosity (LOH) [30] |
Uniparental disomy is owing to inaccurate repair of sister chromatids during S/G2 phase, resulting in the loss of entire genes and the surrounding chromosomal region, as identified by single nucleotide polymorphism (SNP) genotyping. |
Genomic Instability Score eg by Myriad Genetics MyChoice Assay |
TAI + LST + LOH |
Signature 3 (Sig 3) [35] |
A single base substitution mutational pattern, associated with microhomology and large deletions, was identified by whole exome sequencing. |
HRDetect [36] |
A weighted model incorporating a weighted score of base substitution/rearrangement signatures, microhomology-mediated deletions, and an HRD score based on genomic scars identified by whole exome sequencing. |