Gimenez, R. | Search bioRxiv

bioRxiv2025

PULPO: Pipeline of understanding large-scale patterns of oncogenomic signatures

Short Structured AbstractO_ST_ABSSummaryC_ST_ABSPULPO v1.0 is a novel, fully automated pipeline designed for the preprocess and extraction of mutational signatures from raw Optical Genome Mapping (OGM) data. Built using Snakemake and executed within an isolated, Conda-managed environment, PULPO transforms complex cytogenetic alterations, captured at ultra-high resolution, into Catalogue of somatic mutations in Cancer (COSMIC)-based mutational signatures. This innovative approach not only enables researchers to work directly from raw OGM inputs but also streamlines the traditionally complex process of signature extraction, making advanced oncogenomic analyses accessible to users with varying levels of bioinformatics expertise. By facilitating the integration of comprehensive structural variants (SVs) and copy number variants (CNVs) data with established signature catalogs, PULPO paves the way for improved diagnostic accuracy and personalized therapeutic strategies. Availability and ImplementationThe pipeline is open source and freely available under the MIT License at https://github.com/OncologyHNJ/PULPO.

bioinformatics↗

bioRxiv2024

Linking phenology, harvest index and genetics to improve chickpea grain yield

Phenology is critical to crop adaptation. We grew 24 chickpea genotypes in 12 environments to analyse: the environmental and genotypic drivers of phenology; associations between phenology and yield; and phenotypes associated with allelic variants of three flowering related candidate loci: CaELF3a; a cluster of three FT genes on chromosome 3; and a region on chromosome 4 with an orthologue of the floral promoter GIGANTEA. A simple model with 3 genotype-specific parameters explained the differences in flowering response to daylength. Environmental factors causing flower abortion, such as low temperature and radiation and high humidity, led to a longer flowering-to-podding interval. Late podding associated with poor partition to grain, limiting yield in favourable environments. Sonali, carrying the early allele of Caelf3a (elf3a), was generally the earliest to set pod, had low biomass but the highest harvest index. Genotypes combining the early variants of GIGANTEA and FT orthologues FTdel, where a deletion in the intergenic region of FTa1-FTa2 was associated with slow development, usually featured early reproduction and high harvest index, returning high yield in favourable environments. We emphasise the importance of pod set, rather than flowering, as a target for breeding, agronomic, and modelling applications. HighlightThis paper analyses the environmental and genetic controls of chickpea phenology and its effects on grain yield, in a multi-environment trial including 24 genotypes with varying combinations of flowering related genes.

plant biology↗