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363,000+ bioRxiv and medRxiv preprints, including those later published in peer-reviewed journals, across 26 biological disciplines.
Recent preprints
- GenomicsbioRxivPreprint
Tissue-Specific Regulatory and Expression Patterns of CDG-causative genes account to Phenotypic Variability
Cátia J. Neves, António Pedro Gomes, Rita Adubeiro Lourenço…·Paula A. Videira
The paper analyzes the expression and regulatory patterns of CDG-causative genes across tissues to explain phenotypic variability in congenital disorders of glycosylation.
DOI 10.1101/2025.10.09.681373 - GenomicsbioRxivPreprint
Comprehensive benchmarking of somatic mutation detection by the SMaHT Network
The Somatic Mosaicism across Human Tissues Network (SMaHT), Alexej S. Abyzov
The paper benchmarks somatic mutation detection methods using short-read and long-read sequencing across multiple samples, showing improved accuracy with donor-specific assemblies and highlighting the complementary value of bulk, single-cell, and duplex analyses.
5 citations - GenomicsbioRxivPreprint
Human colonization with Phytobacter co-harbouring blaIMP-4 and mcr-9.1 highlights its potential as emerging human pathogen.
Anna Tumeo, Aneta Kovářová, Francesca McDonagh…·Georgios Miliotis
This study reports two multidrug-resistant Phytobacter isolates from human colonization, highlighting their plasmid-borne carbapenemase and antimicrobial resistance profiles.
2 citations - GenomicsSciencePeer-reviewed
Comparative analysis of human and mouse ovaries across age
Eliza A. Gaylord, Mariko H. Foecke, Ryan M. Samuel…·Diana J. Laird
This study compares human and mouse ovarian biology across age using 3D-imaging, single-cell transcriptomics, and functional studies, identifying species-specific and age-related changes in follicle dynamics and gene expression.
- GenomicsbioRxivPreprint
Molecular identification of Ageratum conyzoides Linn (asteracea) leaf using DNA barcoding technique
Jacinta Enoh Apitikori-Owumi, Othuke Bensandy Odeghe, Marvellous Agbabune…·Sayed Mohammed Firdous
This study uses DNA barcoding with the mat-K gene to reliably identify Ageratum conyzoides Linn leaf samples and confirms its effectiveness for medicinal plant identification.
DOI 10.1101/2025.10.08.681161 - GenomicsFood MicrobiologyPeer-reviewed
Genomic factors contributing to the resilience of Salmonella enterica on ready-to-eat muskmelon
Irene Esteban Cuesta, Laura Führer, Steffen Porwollik…·Claudia Guldimann
This study identifies genes in Salmonella enterica serovars that influence their survival on muskmelons, revealing shared and serovar-specific genetic factors.
2 citations - GenomicsGeneticsPeer-reviewed
On ARGs, pedigrees, and genetic relatedness matrices
Brieuc Lehmann, Hanbin Lee, Luke Anderson-Trocmé…·Peter L. Ralph
This paper introduces branch relatedness and efficient algorithms for computing branch GRMs using tree sequences, enabling large-scale genomic analysis.
9 citationstop 3% - GenomicsInternational Journal of Biological MacromoleculesPeer-reviewed
A Mathematical Genomics Perspective on the Moonlighting Role of Glyceraldehyde-3-Phosphate Dehydrogenase (GAPDH)
Sk. Sarif Hassan, Debaleena Nawn, Nabanita Mukherjee…·Vladimir Nikolaevich Uversky
This study analyzes 165 GAPDH sequences to show that multifunctionality is encoded through compositional signatures and conserved spatial architecture, enabling metabolic stability and regulatory plasticity.
5 citations - GenomicsbioRxivPreprint
Read mismapping from segmental duplications drives spurious trans associations
The paper identifies spurious trans-QTLs caused by read mismapping from segmental duplications and estimates their prevalence in GTEx data.
1 citation - GenomicsbioRxivPreprint
Moving Beyond Binary Biomarkers: Machine Learning Model Resolves Concurrent and Molecularly Heterogeneous Mismatch Repair and Homologous Recombination Deficiencies in Prostate Cancer
Komal Sharma, Divin A. Wilson, Yu Wang…·Navonil De Sarkar
This paper develops a machine learning model to identify molecularly distinct DDR subgroups in prostate cancer, revealing concurrent repair deficiencies and improving therapeutic stratification.
DOI 10.1101/2025.10.08.680958 - GenomicsbioRxivPreprint
Environmental DNA Reveals Reykjavik's Human and Ecological History
Kurt Henrik Kjær, Anthony Ruter, Mateu Menéndez‐Serra…·Eske Willerslev
This study uses environmental DNA from Lake Tjornin to challenge the narrative of Norse-induced environmental collapse in Reykjavik, showing dynamic human-environment interactions shaped by both cultural practices and external stressors.
4 citations - GenomicsbioRxivPreprint
Positive selection on hotspot and reinforcing regulatory alleles contributed to hexaploid bread wheat improvement.
Shuhua Zhan, Elie Raherison, William Hargreaves…·LEWIS N. LUKENS
The paper identifies regulatory polymorphisms in hexaploid bread wheat and shows how selection on these alleles improved crop performance.
DOI 10.1101/2025.10.08.680093 - GenomicsNAR Genomics and BioinformaticsPeer-reviewed
Genome assemblies of Indian desi cattle reveals hotspots of rearrangements and immune-related genetic diversity
Sarwar Azam, Abhisek Sahu, Mohammad Kadivella…·Subeer S. Majumdar
This study presents high-quality genome assemblies of five Indian desi cattle breeds, identifying immune-related genetic diversity and rearrangement hotspots.
- GenomicsNAR Genomics and BioinformaticsPeer-reviewed
Genome sequence assembly and annotation of MATA and MATB strains of Yarrowia lipolytica
Narges Zali, Osama E. Demerdash, Kapeel M. Chougule…·Bruce Stillman
The paper presents high-quality genome assemblies and annotations for two Yarrowia lipolytica strains, using a combination of short-read and long-read sequencing technologies.
2 citations - GenomicsbioRxivPreprint
Spatial genomics of the cardiac sarcomere
Christian Cadisch, Victoria Nicole Parikh, Megan E. Grove…·Euan Angus Ashley
The paper integrates genomic and structural data to identify variant intolerance regions in cardiac sarcomere genes and links them to disease mechanisms in hypertrophic cardiomyopathy.
DOI 10.1101/2025.10.07.680947 - GenomicsbioRxivPreprint
SURFR: genome-free discovery of cancer-unique small RNAs from cohort sequencing data
Panagiotis Kalogeropoulos, Konstantin Danilov, Maria Alejandra Ulloa…·Marc R. Friedländer
The paper introduces a reference-free computational method to discover cancer-unique small RNAs from sequencing data, identifying 1211 novel oncRNAs with potential clinical relevance.
DOI 10.1101/2025.10.07.680618 - GenomicsNAR Genomics and BioinformaticsPeer-reviewed
The Patterns of Alternative TSS Usage Explain the Highly Heterogeneous Landscape of 5'UTR Lengths in Eukaryotes
Yu Zhan, Zhenbin Hu, Zhaolian Lu, Zhenguo Lin
The paper investigates how alternative TSS usage correlates with gene expression and translation efficiency across eukaryotes, revealing its role in regulating protein production.
5 citations - GenomicsbioRxivPreprint
Multi-platform framework for mapping somatic retrotransposition in human tissues
Seunghyun Wang, Mingyun Bae, Jinhao Wang…·Eunjung Alice Lee
The paper develops a framework to detect and trace somatic retrotransposition events in human tissues, identifying rare L1 insertions and improving detection accuracy.
1 citation - GenomicsHepatology CommunicationsPeer-reviewed
A Single-Cell Atlas Of Human Pediatric Liver Reveals Age-Related Hepatic Gene Signatures
Rachel D. Edgar, Diana Nakib, Damra Camat…·Sonya A. MacParland
The paper constructs a single-cell RNA-seq atlas of the human pediatric liver and identifies age-related gene signatures that differ from adult livers and are relevant to pediatric liver diseases.