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[Preprint]. 2023 Mar 6:2023.03.05.531179. [Version 1] doi: 10.1101/2023.03.05.531179

Figure 5. Phasing SCN10A and PIK3CA amplicons (sizes: 1.8–13 kb).

Figure 5.

A. Summary table of genotyping and phasing results using SCN10A and PIK3CA amplicons as input DNA; PCR from NA12878 genomic DNA (n = 33 tests) or breast cancer HCC202 cDNA (n = 25 tests). In red, highlighted the phasing errors. R6 (random hexamers) and dT (oligo-dT) for cDNA priming, as indicated. B. Screenshot showing the phasing of three technical replicates on the IGV Portal. Fragments corresponds to 4.1 kb SCN10A amplicon. The top track shows the phasing of one 4.1 kb replicate in phased .pseudo .bam format. Heterozygous sites are separated by numbers that represent distances between neighboring sites. The third track show coverage, inferred haplotype 1 reads, inferred haplotype 2 reads, and unphased reads. The last tracks shows gene annotations and an inferred phase block (blue bar).