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Biology subjects

Duchen, D. A.

Publications and source records attributed to Duchen, D. A..

2 recordsLinked to original sources

Assembly of minimally fragmented metagenomic pangenome graphs

Pangenome variation graphs are a powerful tool for representing genetic diversity within and across populations. For comparative and evolutionary genomic analyses leveraging these graph-based structures, it is important that graph topology reflects the underlying phylogenetic and genetic similarities of the genomes embedded within the graph. However, in metagenomic settings these approaches often produce highly fragmented multi-component graphs, hindering comparisons of genomes embedded across different components. This challenge is particularly pronounced for hypervariable viral families like Anelloviridae, whose short circular genomes frustrate existing variation graph construction methods. We present PANIMaSTA (Progressive Average Nucleotide Identity and Maximum Spanning Tree-Based Assembly), a workflow to construct minimally fragmented metagenomic pangenome sequence variation graphs through progressive assembly. The order in which the genomes are incorporated into the graph is informed by a maximum spanning tree (MST) inferred from an all-to-all genome similarity matrix comprised of pairwise Anelloviridae average nucleotide identities (ANI). Applied to over 5,200 diverse Anelloviridae genomes, we construct a sequence variation graph whose graph topology reflects the global genome similarities observed across the ANI matrix. PANIMaSTA constructs minimally fragmented metagenomic pangenome sequence variation graphs that are not achievable with existing methods suitable for similarity-aware sequence-to-graph mapping and downstream genetic analyses across highly diverse genomes.

bioinformatics↗

A hepatitis B virus (HBV) sequence variation graph improves sequence alignment and sample-specific consensus sequence construction for genetic analysis of HBV

Hepatitis B virus (HBV) remains a global public health concern, with over 250 million individuals living with chronic HBV infection (CHB) and no curative therapy currently available. Viral diversity is associated with CHB pathogenesis and immunological control of infection. Improved methods to characterize the viral genome at both the population and intra-host level could aid drug development efforts. Conventionally, HBV sequencing data are aligned to a linear reference genome and only sequences capable of aligning to the reference are captured for analysis. Reference selection has additional consequences, including sample-specific consensus sequence construction. It remains unclear how to select a reference from available sequences and whether a single reference is sufficient for genetic analyses. Using simulated short-read sequencing data generated from full-length publicly available HBV genome sequences and HBV sequencing data from a longitudinally sampled individual with CHB, we investigate alternative graph-based alignment approaches. We demonstrate that using a phylogenetically representative genome graph for alignment, rather than linear reference sequences, avoids issues of reference ambiguity, improves alignment, and facilitates the construction of sample-specific consensus sequences genetically similar to an individuals infection. Graph-based methods can therefore improve efforts to characterize the genetics of viral pathogens, including HBV, and may have broad implications in host pathogen research.

genomics↗