Search bioRxiv⌕ Search
Home/Archive/bioRxiv

bioRxiv · 10.1101/2025.04.23.650206

HaploExplore, first software specifically designed for the detection of minor allele (MiA-) Haploblocks

Manetti, M.·Hiet, S.·Rahmouni, M.·Spadoni, J.-L.·Dobiecki, A.·Lamanda, M.·Tison, M.·Labib, T.·Giuliani, C.·Le Clerc, S.·Zagury, J.-F.
View original source ↗Export metadata ↓

Abstract

MotivationHaplotype blocks in the genome are informative of evolutionary processes and they play a pivotal role in describing the genomic variability across human populations and susceptibility/resistance to diseases. Several software have been developed for haplotype blocks detection, but they do not distinguish between the impacts of major and minor SNP alleles. In this study, we present a powerful haploblock detection software, specifically designed for identifying haploblocks associated with SNP minor allele haploblocks (MiA-haploblocks). These haploblocks are particularly important as they can significantly influence phenotypic traits, offering a novel approach for studying genetic associations and complex traits. ResultsHaploExplore operates on VCF files containing phased data, exhibiting rapid processing times and generating user-friendly outputs. Its results are convergent for populations starting from 100 individuals. A comparative analysis of HaploExplore against other haploblock detection software revealed its superiority in terms of either simplicity, or flexibility, or speed, with the unique capability to target minor alleles. HaploExplore will be very useful for evolutionary genomics and for GWAS analysis in human diseases, given that the effects of genetic associations may accumulate within a specific haploblock.

Explore related subjects

genomicsPreprint

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Manetti, M., Hiet, S., Rahmouni, M., Spadoni, J.-L., Dobiecki, A., Lamanda, M., Tison, M., Labib, T., Giuliani, C., Le Clerc, S., Zagury, J.-F.. 2025-04-29. HaploExplore, first software specifically designed for the detection of minor allele (MiA-) Haploblocks. https://doi.org/10.1101/2025.04.23.650206

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related preprints

bioRxiv2026

Integrative Nanopore and Illumina sequencing reveals age-associated tRNA modification and CCA-tail dynamics in yeast

Aging is characterized by a progressive loss of proteostasis. Transfer RNAs (tRNAs) are essential regulators of translation, yet their dynamics during aging remain poorly understood due to challenges in sequencing highly modified RNAs. Here we present a benchmarked Nanopore direct RNA sequencing (RNA004 chemistry) resource that profiles the Saccharomyces cerevisiae tRNAome during replicative aging at single-molecule resolution. Using in vitro transcribed tRNA controls, we establish modification detection thresholds and validate key findings with orthogonal Illumina sequencing. While overall tRNA abundance remains largely stable, our resource reveals age-associated terminal A cleavage at the 3' CCA tail of mature tRNAs, targeted T-loop and anticodon modification changes, and single-molecule evidence of modification co-occurrence. This dataset provides a resource for exploring tRNA regulation, translation fidelity, and longevity.

genomics↗
bioRxiv2026

A hydrogen-producing mitochondrion in an anaerobic eukaryotrophic rhizarian

Diverse eukaryotes thrive under low oxygen conditions, in part through highly modified mitochondrion-related organelles (MROs) that use alternate metabolic pathways to support ATP production and cofactor recycling. Anaerobic lifestyles have evolved repeatedly across the eukaryotic tree of life, each providing an independent opportunity to understand how eukaryotes adapt to life in low oxygen conditions. Here, we use single-cell transcriptomics to reconstruct the MRO metabolism of PCE SSF, a benthic eukaryotrophic flagellate and the first cultivated representative of Novel Clade 12 (NC12; Rhizaria), an independently anaerobic rhizarian lineage. PCE SSF possesses an anaerobic hydrogen-producing mitochondrion capable of hydrogenosome-type substrate-level phosphorylation. It also retains a nearly complete but likely branched tricarboxylic acid pathway that lacks citrate synthase and malate dehydrogenase. The function of citrate synthase may instead be fulfilled by the typically cytosolic ATP citrate lyase, previously reported in this context only in the anaerobic cercozoan, Brevimastigomonas motovehiculus. Unlike B. motovehiculus, however, PCE SSF retains only Complex II and the NuoE/NuoF subunits of the electron transport chain and lacks a mitochondrial genome. Together, these features indicate an atypical and reduced mitochondrial metabolism, highlighting the diversity of evolutionary solutions to anaerobic energy metabolism in eukaryotes.

genomics↗
bioRxiv2026

Targeted CRISPRi screening reveals unexpected resilience across the RNA polymerase III transcriptome

Increased RNA polymerase III (Pol III) activity and tRNA abundance are widely linked to cancer cell growth, yet the functional requirement for individual Pol III genes and core components remains unclear, in part due to the difficulty of achieving gene-specific perturbation of highly conserved loci. Here, we developed an inducible CRISPR interference platform and a custom single-guide RNA (sgRNA) library enabling gene-specific targeting of Pol III-transcribed genes and Pol III machinery. Genome-wide screening identified several Pol III dependencies in diploid fibroblasts and HEK293T cells, including multiple initiator methionine tRNA genes among the strongest fitness dependencies. Unexpectedly, glioblastoma models remained largely insensitive to repression of both individual Pol III genes and core Pol III components, despite efficient target repression. These findings establish a general strategy for gene-specific interrogation of conserved Pol III genes and indicate that glioblastoma models tolerate extensive perturbation of Pol III genes and machinery.

genomics↗