Supplementary Figure 4: Schematic of the screening bioinformatics algorithm used to estimate copy number of α-tryptase–encoding sequences in TPSAB1. | Nature Genetics

Supplementary Figure 4: Schematic of the screening bioinformatics algorithm used to estimate copy number of α-tryptase–encoding sequences in TPSAB1.

From: Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Supplementary Figure 4

Genomic DNA sequence reads that mapped initially to the general tryptase locus (chr. 16: 1,250,000–1,350,000) were remapped to the α-tryptase-encoding consensus sequence derived in silico. Using a computer algorithm, unique sequence ‘clusters’ with complete internal sequence homology were identified. These clusters were then assigned to one of the unique gene sequences encoding α-, βI/II-, βIII-, or δ-tryptase. On the basis of the number of unique sequences, the number of clusters mapping back to each specific gene, and the number of reads (read #) covering that sequence, an estimated copy number (Est. copy) could be obtained for each gene sequence. Using these estimates, the α-tryptase/β-tryptase genotype encoded at the TPSAB1 and TPSB2 loci could be predicted.

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