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Litman, A.

Publications and source records attributed to Litman, A..

2 recordsLinked to original sources

Comparative metagenomics using pan-metagenomics graphs

Identifying microbial genomic factors underlying human phenotypes is a key goal of microbiome research. Sequence graphs are a highly effective tool for genome comparisons because they enable high-resolution de novo analyses that capture and contextualize complex genomic variation. However, applying sequence graphs to complex microbial communities remains challenging due to the scale and complexity of metagenomic data. Existing multi-sample sequence graphs used in these settings are highly complex, computationally expensive, less accurate than single-sample alternatives, and often involve arbitrary coarse-graining. Here, we present copangraph, a multi-sample sequence-graph-based analysis framework for comprehensive comparisons of genomic variation across metagenomes. Copangraph uses a novel homology-based graph, which provides both non-arbitrary, evolutionary-motivated grouping of sequences into the same node as well as flexibility in the scale of variation represented by the graph. Its construction relies on hybrid coassembly, a new coassembly approach in which single-sample graphs are first constructed separately and are then merged to create a multi-sample graph. We also present an algorithm that uses paired-end reads to improve detection of contiguous genomic regions, increasing accuracy. Our results demonstrate that copangraph captures sequence and variant information more accurately than alternative methods, provides graphs that are more suitable for comparative analysis than de Bruijn graphs, and is computationally tractable. We show that copangraph reflects meaningful metagenomic variation across diverse scenarios. Importantly, it enables significantly better performance than other metagenomic representations when predicting the gut colonization trajectories of Vancomycin-resistant Enterococcus. Our results underscore the value of our multi-sample, graph-based framework for comparative metagenomic analyses.

bioinformatics↗

Variant-resolved prediction of context-specific isoform variation with a graph-based attention model

In eukaryotes, most genes produce multiple transcript isoforms that diversify the transcriptome and proteome, serving as a key mechanism of functional regulation. Genetic variation can disrupt the RNA processing signals that shape isoform structure and abundance, yet modeling these effects at full-length isoform resolution remains challenging due to the complexity of transcript regulation. Here, we introduce Otari, an attention-based graph neural network framework trained on the human genomic sequence and long-read transcriptomes across 30 tissue types and brain regions. Otari predicts tissue-specific differential isoform abundance by integrating sequence-derived epigenetic and post-transcriptional signals, enabling isoform-resolved variant effect interpretation. Applied to large-scale variant datasets including an autism cohort, Otari uncovers patterns of isoform dysregulation undetectable at the gene level, such as variant-driven perturbations in isoform abundance and microexon usage implicated in autism pathophysiology. We provide Otari as a resource for powering isoform-level analyses across tissues at scale.

bioinformatics↗