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Haplotype reconstruction for genetically complex regions with ambiguous genotype calls: Illustration by the KIR gene region.

Genetic epidemiology - 1 Feb 2024

van der Burg Lars L J, de Wreede Liesbeth C, Baldauf Henning, Sauter Jürgen, Schetelig Johannes, Putter Hein, Böhringer Stefan

Abstract excerpt

Advances in DNA sequencing technologies have enabled genotyping of complex genetic regions exhibiting copy number variation and high allelic diversity, yet it is impossible to derive exact genotypes in all cases, often resulting in ambiguous genotype calls, that is, partially missing data. An example of such a gene region is the killer-cell immunoglobulin-like receptor (KIR) genes. These genes are of special...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37830494
DOI: 10.1002/gepi.22538

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