Article

TypeAssembly: Copy number estimation and allele typing for haplotype assemblies

2025-09-17

Abstract excerpt

Accurately annotating complex genes in the human genome, particularly from haplotype assemblies, remains a significant challenge. To overcome this, we developed TypeAssembly, a local alignment-based framework for copy number estimation and allele typing. Operating in two modes, mode-FASTA and mode-VCF, TypeAssembly can define alleles by either sequence or variant information. We successfully applied it to annotate...

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Literature Corpus work: 8a19d920-6ffa-5474-84ca-44b7fbf88d08
DOI: 10.1101/2025.09.13.675996

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