Topic · Molecular Biology · Biochemistry, Genetics and Molecular Biology
Genomics and Phylogenetic Studies
OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.
1,000+ papers
- BioinformaticsbioRxivPreprint
Metaxa: A Transformer-Based Deep Learning Model for Taxonomic Classification of Long Nanopore Reads
Krešimir Friganović, Dominik Stanojević, Po-Shen Benson Chen, Mile Šikić
Metaxa is a transformer-based model for classifying long Nanopore reads, outperforming existing tools on out-of-sample data and across different sequencing chemistries.
DOI 10.64898/2026.04.20.719780 - GenomicsGenome biologyPeer-reviewed
CrossFilt: A Cross-species Filtering Tool that Eliminates Alignment Bias in Comparative Genomics Studies
CrossFilt improves cross-species genomic analysis by filtering reads that map reciprocally between species, leading to more accurate gene expression comparisons.
3 citationstop 3% - GenomicsbioRxivPreprint
Unraveling the potential of short and long read sequencing for human genome profiling
Aurélie Leduc, Asmae Bachr, Florian Sandron…·Vincent Meyer
This study compares short and long read sequencing technologies for human genome profiling, finding they are equivalent for SNVs but long reads excel in structural variants and haplotype phasing.
DOI 10.64898/2026.04.20.719568 - BioinformaticsbioRxivPreprint
Petabase-scale Papillomavirus Discovery
Jessica Shen, Anton Korobeynikov, Rayan Chikhi, Artem Babaian
The paper searches a petabase-scale dataset to discover new Papillomaviruses, identifying 383 novel types across 105 host species and highlighting biodiversity hotspots.
DOI 10.64898/2026.04.21.719858 - MicrobiologybioRxivPreprint
Genomic correlates of hyperthermostability revisited: a large-scale validation across 1,963 microbial genomes
The paper validates the CvP-bias as a robust genomic marker for hyperthermostability across 1,963 microbial genomes, confirming its significance with high statistical confidence.
DOI 10.64898/2026.04.18.719035 - GenomicsYeastPeer-reviewed
Schizosaccharomyces orthogroup (SOG) resource: a web platform for exploring gene conservation in fission yeasts
Guo‐Song Jia, Fang Suo, Ambre Noly…·Li‐Lin Du
The paper introduces a web platform for exploring gene conservation in fission yeasts using orthogroup data from multiple species.
1 citation - Evolutionary BiologybioRxivPreprint
MutaPhy: A clade-based framework to detect genotype-phenotype associations on phylogenetic trees
Amélie Ngo, Stéphane Guindon, Vincent Pedergnana
MutaPhy detects genotype-phenotype associations in pathogens by analyzing phylogenetic trees, revealing lineage-level associations while reducing false positives.
DOI 10.64898/2026.04.19.719535 - GenomicsScientific ReportsPeer-reviewed
Improved genome assembly of double haploid Prunus persica siblings Lovell 2D and Lovell 5D and the peach NLRome
Christopher Gottschalk, Jordan R. Brock, Ben N. Mansfeld…·Chris D Dardick
The paper improves the genome assembly of two peach doubled haploid varieties using third-generation sequencing and enhances gene and NLR annotations.
DOI 10.1038/s41598-026-46952-6 - GenomicsNature CommunicationsPeer-reviewed
Enhancing inference of differential gene expression in metatranscriptomes from human microbial communities
Evan M. Lee, Nathan P. McNulty, Matthew Charles Hibberd…·Jeffrey I. Gordon
The paper evaluates differential expression methods for metatranscriptomes, identifies limitations, and proposes improvements using real datasets from gnotobiotic mice and clinical studies.
1 citation - GenomicsbioRxivPreprint
Dibenzocyclooctyne-modified PCR primers enable direct enzyme-free click chemistry ligation for custom nanopore amplicon sequencing
Patrick Lypaczewski, B. Jesse Shapiro
The paper introduces DBCO-modified PCR primers for enzyme-free click chemistry ligation in nanopore amplicon sequencing, achieving higher pore occupation and reads than commercial solutions.
DOI 10.64898/2026.04.18.719403 - GenomicsScientific DataPeer-reviewed
Chromosome-level genome assembly of the sponge Halisarca dujardinii
Vasiliy Maksimovich Zubarev, Alexander Cherkasov, Leonid Sidorov…·Ekaterina E. Khrameeva
This paper presents the first chromosome-level genome assembly of the sponge Halisarca dujardinii, along with mitochondrial genome and comprehensive annotation.
DOI 10.1038/s41597-026-07161-y - BioinformaticsbioRxivPreprint
16S rRNA sequence captures microbial functional potential
Jia Liu, M. Clara De Paolis Kaluza, Yana Bromberg
The paper develops embeRNA, a method to predict microbial functions from 16S rRNA sequences without reference databases, showing better performance in novel environments.
DOI 10.64898/2026.04.16.718937 - BioinformaticsNature CommunicationsPeer-reviewed
Comprehensive Transcriptome Quality Assessment Using CATS: Reference-free and Reference-based Approaches
Kristian Bodulić, Kristian Vlahoviček
The paper introduces CATS, a tool for assessing transcriptome assembly quality using reference-free and reference-based approaches, showing improved accuracy and sensitivity over existing methods.
- BioinformaticsbioRxivPreprint
OpusTaxa: A Unified Workflow for Taxonomic Profiling, Assembly, and Functional Analysis of Shotgun Metagenomes
Yen-Kai Chen, Clarice M. Harker, Cong M. Pham…·Feargal J. Ryan
OpusTaxa provides an open-source workflow for streamlined shotgun metagenomic analysis, enabling taxonomic profiling, assembly, and functional analysis with minimal user configuration.
DOI 10.64898/2026.04.15.718825 - BioinformaticsbioRxivPreprint
Relative Index of Chimeric Expression (RICE) Analysis: A Quantitative Approach for Chimeric RNAs Using FusionBlaster
Samuel Haddox, Yuhang Mao, Anam Tajammal…·Hui Li
The paper introduces RICE, a method to quantify chimeric RNA expression, validates it with qPCR and siRNA, and applies it to prostate cancer data to identify differentially expressed chimeric RNAs.
1 citation - BioinformaticsbioRxivPreprint
Methylation-aware long-read phasing significantly improves genome-wide haplotype reconstruction
LongHap improves genome-wide haplotype reconstruction by integrating methylation data, increasing phase block lengths and reducing switch errors across diverse datasets.
DOI 10.64898/2026.03.11.710820 - BioinformaticsbioRxivPreprint
Uncertainty-aware benchmarking reveals ambiguous transcripts in mRNA-lncRNA classification
Daniel García‐Ruano, Mikaël Georges, Saswat K. Mohanty…·Domitille Chalopin
The paper benchmarks transcript classifiers to identify ambiguous mRNA-lncRNA classifications by analyzing uncertainty and feature contributions.
DOI 10.64898/2026.04.14.718168 - GenomicsGenome biologyPeer-reviewed
A recurrent sequencing artifact on Illumina sequencers with two-color fluorescent dye chemistry and its impact on somatic variant detection
Beverly J. Fu, Vinay Viswanadham, Dominika Maziec…·Peter J. Park
The paper identifies a sequencing artifact in Illumina NovaSeq 6000 two-color chemistry that causes T>G substitutions, affecting low-VAF somatic variant detection.
- BioinformaticsbioRxivPreprint
GANGE: Achieving Sequencing Without Sequencing With Diffusion Guided Generative Genomic Transformer
Sagar Gupta, Anchit Kumar, Umesh Bhati, Ravi Shankar
GANGE is a deep-learning system that generates accurate genomic sequences from low-coverage, error-prone reads, reducing sequencing costs and enabling regulomics research without genome data.
DOI 10.64898/2026.04.15.718133 - BioinformaticsbioRxivPreprint
vcfilt: A Zero-Allocation Streaming Filter for High-Throughput VCF Processing
vcfilt is a high-performance VCF filter that achieves significant speedups over existing tools by using a zero-allocation byte-scan parser for common filtering criteria.
DOI 10.64898/2026.04.14.718370 - GenomicsBMC GenomicsPeer-reviewed
Genome assembly and annotation of the olive grass mouse Abrothrix olivacea reveal transcriptomic and cellular adaptations across contrasting biomes
Melisa E. Magallanes, Baricalla Agustin, Matías Feijoo…·Enrique Pablo Lessa
The paper presents the first genome assembly of Abrothrix olivacea and uses it to study gene expression and genetic divergence in kidney tissue across contrasting environments.
DOI 10.1186/s12864-026-12853-1 - Evolutionary BiologyMethods in Ecology and EvolutionPeer-reviewed
pylifemap: Mapping Data onto the Tree of Life
Julien Barnier, Cassandra Bompard, Aurélie Siberchicot…·Damien M. de Vienne
pylifemap maps biological data onto the NCBI Taxonomy tree, enabling interactive visualization of datasets like the IUCN Red List and metagenomics results.
DOI 10.1111/2041-210x.70300 - MicrobiologybioRxivPreprint
Easy-to-use whole-genome sequencing workflows and standardized practices to uncover hidden genetic variation in Synechocystis PCC 6803 wild-type and knock-out strains
Marius L. Theune, Ruben Fritsche, Niklas Kueppers…·Kirstin Gutekunst
This paper develops workflows for whole-genome sequencing to identify genetic variation in Synechocystis strains and highlights the importance of strain validation in knock-out studies.
- BioinformaticsBioinformaticsPeer-reviewed
BABAPPAlign: A Multiple Sequence Alignment Engine with a Learned Residue-Level Scoring Function
BABAPPAlign improves multiple sequence alignment by using a learned residue-level scoring function, outperforming existing tools on standard benchmarks.
DOI 10.1093/bioinformatics/btag189 - BioinformaticsBioinformaticsPeer-reviewed
nf-core/viralmetagenome: A Novel Pipeline for Untargeted Viral Genome Reconstruction
Joon Klaps, Philippe Lemey, Magda Bletsa…·Liana Eleni Kafetzopoulou
The paper introduces a pipeline for automated viral genome reconstruction and variant analysis from metagenomic data, validated on simulated and real datasets.
2 citations - GenomicsbioRxivPreprint
A Reference Genome for the Critically Endangered Philippine Eagle (Pithecophaga jefferyi), the National Bird of the Philippines
Jonah Ray Hernandez, John Kim D. Aligato, Jayson Ibañez…·Nicanor Pier Giorgio Austriaco
The paper presents a high-quality reference genome for the critically endangered Philippine Eagle, revealing its evolutionary relationships and population history.
DOI 10.64898/2026.04.12.717985 - GenomicsbioRxivPreprint
Exon Targeted Retrieval and Classification Toolbox (ExTRaCT): a gene search pipeline to find APOBEC3 Z-domains in novel bat genomes
Brenda Delamonica, Bat1K 21-Families Group, Mani Larijani…·Liliana M. Dávalos
ExTRaCT is a gene search pipeline that identifies APOBEC3 Z-domains in novel bat genomes with high accuracy and efficiency.
DOI 10.64898/2026.03.15.711917 - MicrobiologybioRxivPreprint
Contrasting population structures coexist in a strain-resolved estuarine microbiome
Lauren Michelle Lui, Torben N Nielsen
The paper uses high-resolution metagenomic sequencing to reveal contrasting population structures in a microbial community, showing distinct evolutionary strategies coexisting within a single sample.
DOI 10.64898/2026.03.20.713316 - BioinformaticsNature BiotechnologyPeer-reviewed
FAMSA2 enables accurate multiple sequence alignment at protein-universe scale
Adam Gudyś, Andrzej Zieleziński, Cédric Notredame, Sebastian Deorowicz
FAMSA2 provides high-accuracy multiple sequence alignments for large-scale protein datasets with significantly improved speed.
12 citationstop 1%