Laboratory Medicine and Quality Assurance

Fig. 2. Comparison of alignment to hg19, human genome 19 (hg19) and Genome Reference Consortium human 38 (GRCh38). Alignment to hg19 (Left) and GRCh38 (Right). Three variants, which were not detected in the bioinformatics pipeline using GRCh38: (A) NM_000219.6(KCNE1): c.112A>G p.Ser38Gly; (B) NM_005429.5(VEGFC): c.1256_1258delTGA; and (C) NM_004415.4(DSP):c.741T>G (p.Ala247=).

Lab Med Qual Assur 2023;45:180~186 https://doi.org/10.15263/jlmqa.2023.45.4.180