May 9, 2018 · We propose a new unified framework for variant calling with short-read data utilizing a representation of human genetic variation – a pan-genomic reference.

May 9, 2018 · We propose a new unified framework for variant calling with short-read data utilizing a representation of human genetic variation - a pan-genomic reference.

Table 1 Edit distance from the predicted donor sequence to the true donor. The average distance between the true donors and the reference is 95193,9.

Conclusions: Our experiments show that by replacing a standard human reference with a pan-genomic one we achieve an improvement in single-nucleotide variant ...

Aug 18, 2021 · We propose Pan-genome augmented Structure Variation calling tool with read Re-alignment (PanSVR), a novel pan-genome-based SV calling approach.

Towards pan-genome read alignment to improve variation calling. Daniel Valenzuela, Tuukka Norri, Niko Välimäki, Esa Pitkänen, Veli Mäkinen · Helsinki Institute ...

Nov 17, 2024 · An approach that represents more of the natural genomic variation within a species than a single linear reference genome, and this field is called pangenomics.

Oct 24, 2019 · Mapping reads against multiple genomes representing a genus, a species or a population, i.e. a pangenome, partially addresses this problem, ...

Li H. A statistical framework for snp calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.

Jun 25, 2015 · This is the focus of this article: We study a generic approach to add variation detection support on top of the multiple references pan-genomic ...