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Sensitivity of the <t>HRD</t> INSIGHT assay to detect (A) germline and somatic SNV and small Indel mutations, (B) germline large genomic rearrangements (LGRs) of BRCA1/2 genes in reference standards. (C) Concordance of the HRD INSIGHT assay to determine the genomic instability score and status of the reference standards. (D) Positive-, negative- and overall-percent agreement (NPA, PPA, Overall) of the HRD INSIGHT assay with the HRD Focus Panel (AmoyDx), TruSight Oncology TSO 500 HRD (Illumina) and <t>SOPHiA</t> DDM HRD Solutions (Sophia Genetics) to determine HRD status of clinical FFPE ovarian samples. For 4 conflicting samples, the results of individual assays were shown.
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Sensitivity of the HRD INSIGHT assay to detect (A) germline and somatic SNV and small Indel mutations, (B) germline large genomic rearrangements (LGRs) of BRCA1/2 genes in reference standards. (C) Concordance of the HRD INSIGHT assay to determine the genomic instability score and status of the reference standards. (D) Positive-, negative- and overall-percent agreement (NPA, PPA, Overall) of the HRD INSIGHT assay with the HRD Focus Panel (AmoyDx), TruSight Oncology TSO 500 HRD (Illumina) and SOPHiA DDM HRD Solutions (Sophia Genetics) to determine HRD status of clinical FFPE ovarian samples. For 4 conflicting samples, the results of individual assays were shown.

Journal: medRxiv

Article Title: Combination of BRCA deep targeted sequencing and shallow whole genome sequencing to detect homologous recombination deficiency in ovarian cancer

doi: 10.1101/2024.09.10.24313378

Figure Lengend Snippet: Sensitivity of the HRD INSIGHT assay to detect (A) germline and somatic SNV and small Indel mutations, (B) germline large genomic rearrangements (LGRs) of BRCA1/2 genes in reference standards. (C) Concordance of the HRD INSIGHT assay to determine the genomic instability score and status of the reference standards. (D) Positive-, negative- and overall-percent agreement (NPA, PPA, Overall) of the HRD INSIGHT assay with the HRD Focus Panel (AmoyDx), TruSight Oncology TSO 500 HRD (Illumina) and SOPHiA DDM HRD Solutions (Sophia Genetics) to determine HRD status of clinical FFPE ovarian samples. For 4 conflicting samples, the results of individual assays were shown.

Article Snippet: Moreover, CNA has been utilized in the ESMO-recommended test kit SOPHiA DDM™ HRD Solution (Sophia Genetics, USA) [ ] and well validated as a biomarker of HRD, not only in OC but also other cancer types [ , , ].

Techniques: