Abstract Motivation Long-read metagenomic sequencing improves assembly contiguity and enables genome-resolved analysis of complex microbial communities, but accurate taxonomic classification of long reads and assembled contigs remains challenging. Highly scalable k-mer-based classifiers such as Kraken2 frequently over-...
M. C. Nguyen, M. Schatz· Bioinformatics· 0 citations
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
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
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
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