Author

Michael C. Schatz

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Open access Oct 2026

Panagram reveals pangenome architectures underlying trait variation in plants and animals

Panagram is presented, an ultrafast, alignment-free framework for pangenome analysis that uses pan-k-mer profiles to quantify shared and divergent sequence patterns across genomes, which enables scalable comparisons of structurally complex genomes without requiring computationally intensive whole-genome multiple alignm...

Katharine M. Jenike, Nicole L. Brown, S. Kovaka et al. · bioRxiv · 0 citations

Open access Sep 2026

Perseus: lineage-aware refinement of Kraken2 taxonomic classification for long read metagenomes

Perseus is presented, a lineage-aware confidence estimation framework for taxonomic classification that models the spatial distribution and hierarchical consistency of k-mer evidence along sequences that consistently and substantially reduces the false assignment rate while improving precision and lineage-consistent ac...

M. C. Nguyen, Michael C. Schatz · Bioinformatics · 0 citations

Open access Sep 2026

Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesis

Somatic mosaicism contributes to genomic variation, yet postzygotic structural variants remain under-characterized. We performed long- and short-read WGS from multiple individuals (n=47 normal tissues; n=168 samples) and identified mosaic structural variants in all individuals and germ layers, impacting a median 285.2...

A. Annapragada, James R. White, Hope Orjuela et al. · bioRxiv · 0 citations

Open access Sep 2026

Gene duplication of SNAPC1 generates transcription factors for snRNAs and sex-specific piRNAs

Piwi-interacting RNAs (piRNAs) are small non-coding RNAs essential for transposon silencing and germline integrity across metazoans. In many species, piRNA expression is sexually dimorphic, yet the molecular mechanisms underlying this sex specificity remain poorly understood. In Caenorhabditis elegans, sexually dimorph...

L. Benner, Margaret R. Starostik, Rebecca J. Tay et al. · bioRxiv · 0 citations

Open access Aug 2026

A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations

A cloud-based imputation service built on a multi-ancestry reference panel derived from 515,579 jointly phased genomes from the All of Us and AnVIL datasets, establishing a new foundation for genome-wide association studies (GWAS) and fine-mapping, especially in previously underrepresented populations.

Franjo Ivankovic, A. Ko, M. Aster et al. · medRxiv · 0 citations