Fig. 4: The performance of NanoStrand-seq in calling SNPs within high-complexity genomic regions. | Cell Discovery

Fig. 4: The performance of NanoStrand-seq in calling SNPs within high-complexity genomic regions.

From: Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq

Fig. 4: The performance of NanoStrand-seq in calling SNPs within high-complexity genomic regions.

a SNP distribution within five different SNP call sets (top) and gene structure (bottom) in the MHC region. The light gray column highlights additional SNPs detected by NanoStrand-seq relative to GIAB, while most of these SNPs were overlapped with 1000 Genome, PB-CCS data, or bulk ONT-UL data. b The concordance of SNPs in the highlighted area (a) in five different SNP call sets. c The concordance of SNPs in the MHC region in the five different SNPs call sets.

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