pcbi.1008904.g005.tif (356.19 kB)
Use of comprehensive reference improves copy determinations.
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posted on 2021-08-02, 17:39 authored by Wesley M. Marin, Ravi Dandekar, Danillo G. Augusto, Tasneem Yusufali, Bianca Heyn, Jan Hofmann, Vinzenz Lange, Jürgen Sauter, Paul J. Norman, Jill A. Hollenbach(A) Frequencies of off-target read mappings using a comprehensive reference vs. a single-sequence per gene reference for the synthetic dataset. (B) Single-sequence reference vs. comprehensive reference copy number plot of KIR2DS1 for the European cohort. The copy plot of the single-sequence reference alignment shows no differentiation between copy groupings while the comprehensive reference alignment shows a clear distinction between the copy 0, 1 and 2 groups.
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short-read sequencing datacustom alignment processing workflowcopy number determination performancekiller-cell immunoglobulin-like rec...KIR gene copy number classification...high-throughput KIR genotypinggenotype determination workflowKIR genesgenotype determination performanceKiller-cell Immunoglobulin-like Rec...chromosome 19 encodes receptorsAfrican validation cohortshigh-throughput KIR sequence analysisnovel alignment strategiesgenotype determination accuracygene copy numberhigh-fidelity sequencing method
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