Laboratory Medicine and Quality Assurance

Fig. 3. Visualization of discrepant variants from target capture and amplicon methods by Integrative Genomics Viewer. (A) NM_000059.3(BRCA2):c.2798_2799delCA from D114 sample. (B) NM_007294.3(BRCA1):c.911_918dup from D126 sample. (C) NM_000059.3(BRCA2):c.8172_8175delGTGG from D138 sample. (D) NM_007294.3(BRCA1):c.3442delG from D139 sample. The results marked with (*) are the results of DxSeq BRCA1/2 (Dxome, Seongnam, Korea), and the results marked with (_†) are the results of BRCAaccuTest (NGeneBio, Seoul, Korea). Abbreviations: BRCA1, breast cancer susceptibility gene 1; BRCA2, breast cancer susceptibility gene 2.

Lab Med Qual Assur 2022;44:216~225 https://doi.org/10.15263/jlmqa.2022.44.4.216