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Preprints posted in the last 90 days, ranked by how well they match Gigabyte's content profile, based on 62 papers previously published here. The average preprint has a 0.05% match score for this journal, so anything above that is already an above-average fit.

1
Genome sequence data of Ascogaster reticulata (Hymenoptera: Braconidae)

Yokoi, K.; Kainoh, Y.; Kanda, M.; Kuwasaki, S.; Kimura, K.; Bono, H.

2026-10-11 genomics 10.64898/2026.10.06.756916 medRxiv
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Parasitoid wasps develop in or on other arthropods and have evolved a wide range of strategies for exploiting their hosts. Ascogaster reticulata is a solitary egg to larval endoparasitoid wasp belonging to the subfamily Cheloninae of Braconidae. We constructed a genome assembly using long-read sequence data. The assembled genome was 280.5 Mbp, consisting of 209 contigs. The N50 value and GC content ratio were 13.9 Mbp and 30.43%, respectively. The percentage of transposable elements and repetitive regions was 52.43%. The predicted number of genes is 27,261. Merqury revealed that the QV value and completeness of the genome were 61.79 and 99.3917%, respectively. BUSCO analysis detected approximately 99% of the core genes. These results suggest that the genome data were of sufficient quality for use as a reference genome. Therefore, these data can be utilized as a genomic resource for comparative studies within Braconidae and for future investigations into the biology and evolution of Cheloninae parasitoid wasps.

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YGEP: An Integrated Web Platform for Genomic Evaluation and Intelligent Breeding in Yak

Yu, Y.; Li, Z.; Shan, X.; Fu, Y.; Fu, Y.; Zhang, Z.; Guo, X.; Wang, S.; Zhao, J.; Zhong, J.; Suo, L.; Lan, D.; Wang, J.

2026-10-06 bioinformatics 10.64898/2026.09.29.755494 medRxiv
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Background: The yak (Bos grunniens) is an essential livestock species in high-altitude alpine ecosystems, serving key roles in meat, milk, and wool production as well as ecological maintenance. However, traditional yak breeding systems face several limitations, including fragmented herd data management, inefficient phenotypic collection, missing pedigree records, and high technical barriers to applying genomic technologies. These factors constrain the widespread application of modern genetic evaluation methods in yak breeding programs. Description: We developed the Yak Genomic Evaluation Platform (YGEP, https://yakbreeding.swun.edu.cn/en/), an integrated digital system for yak genetic selection and herd management. YGEP integrates three core analytical modules: pedigree reconstruction, genotype imputation and genomic breeding value estimation. Benchmarking on 706 yaks showed that GBLUP achieved a prediction accuracy of r = 0.96 for cannon bone circumference (CCB), and KBeagle reached 84.0% imputation accuracy with the combined reference panel. Conclusion: YGEP bridges the gap between advanced genomic analytics and practical yak breeding. By integrating pedigree reconstruction, genotype imputation, and GEBV estimation into a user-friendly cloud platform, YGEP effectively eliminates technical and data bottlenecks. Overall, it provides an accessible, scalable, and standardized solution to advance digital herd management and precision genetic improvement in alpine livestock.

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Three new species of Thelymitra (Diurideae, Orchidaceae) endemic to Aotearoa New Zealand.

Jones, H. R.; Tate, J. A.; Lehnebach, C. A.

2026-09-01 plant biology 10.64898/2026.08.27.745643 medRxiv
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Three new species of sun orchid (Thelymitra) endemic to Aotearoa New Zealand are here described. These are T. palustris, T. scabrifolia and T. semaphora. The morphological distinctiveness of these three species has been acknowledged for decades; however, their taxonomic status has remained unresolved. Evidence from existing karyological data, recently generated DNA sequence data (LFY and ycf1) and morphological studies from historical and fresh collections are used here to support their formal description. Both, T. palustris and T. semaphora are restricted to wet habitats north of Auckland (North Island). Thelymitra scabrifolia inhabits mostly scrub, and it has a similar northern North Island distribution, but is has been found also in Manawat[a]whi / Three Kings Islands and historically in Otago (South Island). All three species are polyploids and are of conservation concern.

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Gene model for the ortholog of Ilp3 in Drosophila pseudoobscura

Lieser, B. C.; Laskowski, L. F.; Huber, R.; Kolker, K. O.; Arsham, A. M.; Rele, C. P.; Toering Peters, S.

2026-08-23 genomics 10.64898/2026.08.19.745830 medRxiv
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Gene model for the ortholog of Insulin-like peptide 3 (Ilp3) in the D. pseudoobscura Apr. 2013 (BCM-HGSC Dpse_3.0/DpseGB3) Genome Assembly (GenBank Accession: GCA_000001765.2) of Drosophila pseudoobscura. This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

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Whole-genome sequencing data of a diverse grapevine germplasm collection maintained in Bordeaux, France

de Miguel, M.; Lafargue, M.; Saez-Laguna, E.; Tran, J.; Girollet, N.; Bert, P.-F.; Wang, Y.; Liang, Z.; Guillaumie, S.; Dai, Z.; Ollat, N.

2026-08-05 genomics 10.64898/2026.07.31.742002 medRxiv
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Grapevine (Vitis vinifera) is one of the worlds most economically important fruit crops and a model species for perennial fruit tree genetics and genomics. The extensive genetic diversity found in cultivated and wild Vitis species provides a valuable resource for studies of domestication, adaptation, trait evolution, and breeding. This article presents a standardized whole-genome variant dataset comprising 547 grapevine accessions maintained in the INRAE Bordeaux grapevine germplasm collection, including 397 domesticated V. vinifera cultivars and 150 wild Vitis accessions. Whole-genome sequencing data were generated at a target sequencing depth of approximately 20x, and sequence variants were identified using a standardized Genome Analysis Toolkit (GATK) workflow against the reference genome PN40024v4 (40X). Variant discovery was carried out simultaneously across the complete sample set to ensure consistent genotype calling. All accessions were sequenced using the same technology and processed using the same reference genome, sequence alignment, variant-calling, and filtering workflow to produce a standardized variant dataset comprising ca. 9.1M SNPs and 0.77M INDELs. The resulting VCF files provide a harmonized genomic resource that can be readily reused for studies of grapevine genetics, germplasm characterization, population genomics, comparative genomics, genome-wide association studies, and the development and benchmarking of bioinformatic methods. SPECIFICATIONS TABLE O_TBL View this table: org.highwire.dtl.DTLVardef@490449org.highwire.dtl.DTLVardef@1b884fborg.highwire.dtl.DTLVardef@12280bforg.highwire.dtl.DTLVardef@32bcceorg.highwire.dtl.DTLVardef@1099221_HPS_FORMAT_FIGEXP M_TBL C_TBL VALUE OF THE DATAO_LIThis dataset provides whole-genome raw sequencing for 118 wild Vitis accessions originating from North America and Asia and a sequencing-derived variant data for these accessions and 429 Vitis vinifera cultivars and wild accessions from the INRAE Bordeaux germplasm collection, previously published by Dong et al. 2023[1]. The dataset captures genetic variation across a total of 547 grapevine accessions, including domesticated and wild grapevine germplasm using a common variant-calling pipeline, facilitating direct comparisons among accessions. C_LIO_LIThe inclusion of wild Vitis species together with cultivated grapevine accessions provides a resource for studies of grapevine diversity, domestication, phylogenetic relationships, and comparative genomics. The dataset enables the investigation of genetic variation across multiple Vitis species using a standardized set of genomic variants. C_LIO_LIThe variant call format (VCF) file can be reused for population genetics, phylogenetic analyses, genetic diversity assessments, introgression analyses, and the identification of genomic regions of interest. The dataset is compatible with widely used bioinformatics software and can be integrated with other publicly available grapevine genomic resources. C_LIO_LIThis dataset constitutes a genomic resource for grapevine breeding and conservation research. Researchers can use these data to identify genetic diversity in wild relatives, compare allelic variation between cultivated and wild germplasm, investigate candidate loci associated with traits of interest, and support the management and characterization of grapevine germplasm collections. C_LI

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Chromosome-level genome assembly of the Olympia oyster (Ostrea lurida), the only oyster species native to the West Coast of North America

Calla, B.; Sim, S. B.; Yeats, M. S.; Johnson, K. M.; Chavez-Congrains, K.; Kauwe, A. N.; Plough, L. V.; Geib, S. M.

2026-10-01 genomics 10.64898/2026.09.23.753890 medRxiv
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The Olympia oyster (Ostrea lurida) was once a major food source and a key component of coastal marine ecosystems and culture on the US West Coast. Overfishing and habitat contamination in the early to mid-20th century severely depleted populations of Olympia oysters, and the species is currently considered a species of concern. Although multiple restoration efforts are underway, progress understanding the species biology and recovery potential has been limited by the historical lack of genomic resources. Here, we report a chromosome-level assembly of the Olympia oyster. The assembly was built using Oxford Nanopore reads and Hi-C to obtain a highly contiguous 1.03 Gb-assembly consisting of 10 chromosomes. RNA from gills, mantle, adductor muscle, and a mix of brooding eggs and larvae were also sequenced as 150 nt long paired-end reads which were used to guide the genome annotation. Over 52 K genes were predicted in the genome, of which 34K were protein-coding. A BUSCO analysis on the assembly showed 98.9% of the mollusca_odb12 gene set were complete (with 2.1% duplicated, and 0.8% missing). The short RNA reads were also used to identify tissue-level gene expression signatures in adductor muscles, egg and brooding larvae, and mantle. Development-related genes were highly expressed in eggs and brooding larvae whereas many xenobiotic metabolism genes were present in mantle tissues, highlighting mantles role in the interaction of the oyster with external environments. This new genomic resource will greatly advance our understanding of this keystone mollusk and provide a critical tool for guiding restoration efforts and the development of sustainable commercial production.

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Gap-free telomere-to-telomere haplotypes assembly of the hybrid grouper 'Yushuban' (Cromileptes altivelis female x Epinephelus fuscoguttatus male)

Cai, Y.; Wang, C.; Li, M.; Yang, Y.; Cai, C.; Lu, S.; Chen, S.

2026-09-25 genomics 10.64898/2026.09.20.752973 medRxiv
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The hybrid grouper 'Yushuban' (Cromileptes altivelis [female] x Epinephelus fuscoguttatus [male]) has shown promising performance in aquaculture trials, yet no complete reference genome has been available for this hybrid. We generated two gapless, telomere-to-telomere (T2T) haplotype-resolved genome assemblies of a single individual by integrating short-read, PacBio HiFi, Oxford Nanopore ultralong-read and Hi-C data. The maternal (Yushu_Calti_1.0) and paternal (Yushu_Efusc_1.0) haplotypes are 1,077.33 Mb and 1,083.36 Mb in length, with N50 values of 45.46 Mb and 45.55 Mb, respectively. Across all platforms, over 99.4% of reads mapped to each assembly, and Merqury-based quality values reached 57.7413 and 59.2068 (PacBio). BUSCO recovered 99.78% and 99.75% of complete core genes. We predicted 27,248 and 27,566 protein-coding genes, of which 98.52% and 99.23% were functionally annotated, and annotated telomeric motifs and repetitive elements (46.12% and 47.18% of each genome). These assemblies fill a gap in grouper genomic resources and provide a foundation for genetic dissection, parental genome comparison and molecular breeding of this hybrid.

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Chromosome assembly for the Black bean aphid Aphis fabae

Whitehead, M. A.; Claudia Wierzbicki, C.; Hughes, M.; Darby, A. C.

2026-08-11 genomics 10.64898/2026.08.05.743085 medRxiv
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The black bean aphid, Aphis fabae is a crop pest and vector of insect-transmitted pathogens, comprising closely related sub-species with overlapping host ranges. In other Aphis species, over-expression of specific detoxification genes has been linked to insecticide tolerance. We present two chromosome-scale assemblies for a clonal A. fabae line, representing two phased haplotypes, generated using HiFi and Hi-C sequencing technologies. A comprehensive genome annotation, built with PacBio Iso-Seq data, was used to investigate genes underlying insecticide tolerance. Both genomes are comprised of four chromosomal blocks (haplotype 1: 427 Mb; haplotype 2: 396 Mb) with high BUSCO completeness (98.7%). Comparative genomics revealed an expansion of UDP-glycosyltransferases, whose expression is linked to insecticide detoxification in other Aphis species. These high-quality references provide a foundation for studying A. fabae sub-species and a genomic resource for investigating insecticide tolerance across the Aphis genus. Author summaryHere we have provided a comprehensive assembly and annotation for further study into the Black bean aphid, Aphis fabae, using up to date long-range sequencing technologies. The final assemblies for both haplotypes are chromosome length and consist of 4 main chromosome blocks, consistent with the literature. The A. fabae genome was found to contain an increase in copy number of UDP-glycosyltransferases, which have previously been linked to insecticide resistance. The work here will be a resource to those studying insecticide tolerance in crop pests, as well as the differences between A. fabae sub-species.

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Chromosome-level genome assembly of the European leaf-toed gecko, Euleptes europaea

Paris, J. R.; Abueg, L.; Pelan, S.; Sims, Y.; Tilley, T.; Mountcastle, J.; Balacco, J.; OToole, B.; Fedrigo, O.; Formenti, G.; Jarvis, E. D.; Canestrelli, D.; Salvi, D.

2026-08-18 genomics 10.64898/2026.08.10.744031 medRxiv
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The European leaf-toed gecko (Euleptes europaea) is a small, nocturnal gecko endemic to the western Mediterranean. As a phylogenetically distinctive member of the Gondwanan family Sphaerodactylidae, it represents an important species for studying Mediterranean island biogeography, adaptation, and reptile genome evolution. The species also occupies a key position for investigating the evolution of sex chromosomes, as geckos exhibit remarkable diversity and frequent transitions in sex-determination systems. We present a chromosome-level genome assembly of Euleptes europaea generated as part of the Vertebrate Genomes Project. The 1.8 Gb assembly has a scaffold N50 of 102.3 Mb (contig N50 27 Mb), with 21 chromosome-scale scaffolds corresponding to the known karyotype (2n = 42). The primary assembly has a BUSCO completeness of 97.80% (95.60% as single-copy), a k-mer completeness of 96.00%, and a k-mer quality value (QV) of 61.20. Repetitive elements account for 53.20% of the genome and genome annotation identified 18,633 protein-coding genes. This high-quality reference genome will facilitate studies of genome evolution, island adaptation, and sex chromosome evolution across geckos and other reptiles.

10
Unraveling Wheat Aphid Diversity in Bangladesh Through Integrative Genetic and Morphological Approaches

Shah, M. R.; Rahman, M. M.; Munira, M. S.; Hossen, M. F.; Uddin, M. N.

2026-07-30 zoology 10.64898/2026.07.27.741099 medRxiv
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Accurate species identification is fundamental for understanding insect pest diversity and developing effective management strategies. Wheat aphids are among the most destructive insect pests worldwide, yet comprehensive molecular confirmation of species diversity in Bangladesh has been lacking. This study employed an integrative taxonomic approach combining DNA barcoding and morphological characterization to identify wheat aphid species collected from major wheat-growing regions of Bangladesh. Aphid specimens were sampled from 11 locations across four districts during the 2024-2025 wheat growing season. A partial fragment of the mitochondrial cytochrome C oxidase subunit I (COI) gene was amplified and sequenced, followed by BLAST analysis, phylogenetic reconstruction using the Maximum Likelihood method, genetic distance estimation, and detailed morphometric analyses. COI sequence analysis identified five wheat aphid species: Sitobion avenae, Rhopalosiphum padi, R. maidis, R. rufiabdominalis, and Hysteroneura setariae. Sitobion avenae was the predominant species, occurring across all surveyed regions. BLAST similarity ranged from 99.68% to 100%, confirming reliable species-level identification. Phylogenetic analysis grouped all specimens into five well-supported species-specific clades with strong bootstrap support (97-100%), corroborating molecular identification. Pairwise genetic distance analysis revealed very low intraspecific divergence (0.0-0.18%) and clear interspecific divergence (4.9-11.9%), indicating strong genetic discrimination among species. Morphological and morphometric analyses further distinguished the five species, with significant interspecific differences (P < 0.0001) observed for body length, antennal length, tubercle width, cauda length, and cornicle length. The concordance between molecular and morphological evidence demonstrates the robustness of the integrative taxonomic framework. This study provides the first comprehensive molecular and morphological characterization of wheat aphid species in Bangladesh, establishing a reliable baseline for biodiversity assessment, pest surveillance, insecticide resistance monitoring, and the development of evidence-based integrated pest management strategies to support sustainable wheat production amid changing agroecological conditions.

11
A Cell Viability and Utility Index (CVUI) for wildlife fibroblast biobanking: framework development and preliminary empirical validation

Calatayud, N. E.; Jacobs, L.; Hetz-Rodriguez, J.; Chan, Y.; Rowe, K. C.; Rowe, K.; Roberts, K.; Date, K.

2026-08-03 zoology 10.64898/2026.07.31.742150 medRxiv
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Wildlife biobanking depends on consistent, reproducible cell culture outcomes, yet no standardised framework exists for assessing culture quality across taxa or for integrating quality metrics into institutional collections management systems. Here, we present the Cell Viability and Utility Index (CVUI), a scored pipeline framework validated in a pilot study of 154 culture rounds from 46 species held in the Ian Potter Australian Wildlife Biobank at Museums Victoria Research Institute. The CVUI was adapted from the Wildlife Sperm Index (Jacobs et al., 2026) and assigns weighted scores encompassing four sequential culture stages -- establishment, first passage, expansion, and cryobanking -- with a continuous viability modifier applied at the cryobanking stage. Survival analysis identified individual animal identity as the primary source of variance in culture establishment, whereas taxon was the primary predictor of first-passage success. Beyond first passage, failure rates were too low to reliably assess either effect, with critical attrition concentrated at the earliest pipeline stages. These findings informed the differential weighting of CVUI components and have direct implications for workflow prioritisation and banking strategy. Monitoring can now be targeted at establishment and first passage, the stages where intervention has the greatest impact, with taxon-specific attention warranted at first passage and individual-level attention at establishment, while the robustness of the late-stage protocol means that banking yield is largely determined before a culture reaches P1. Integration of CVUI scores into collections management platforms such as Axiell EMu (Electronic Museum) would transform passive record-keeping into active decision support, enabling real-time quality tracking, early flagging of at-risk cultures, and longitudinal benchmarking of biobank performance across species, collectors, and tissue types. This framework provides a foundation for optimising wildlife fibroblast biobanking protocols, developing taxon-specific culture standards, and expanding standardised quality assessment across wildlife biobanks nationally and internationally.

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Goat genome assemblies, nine breeds for pangenome contribution

Birdes, C.; ECHE, C.; Vernette, C.; Marcuzzo, C.; Sarry, J.; Suin, A.; Kuchly, C.; Rogier, O.; Gaspin, C.; Milan, D.; Donnadieu, C.; Iampietro, C.; Klopp, C.; Tosser-Klopp, G.

2026-10-11 genomics 10.64898/2026.10.08.757565 medRxiv
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The goat research community benefits from one of the most comprehensive livestock genome assemblies, ARS1. However, the rich diversity of goat breeds suggests that a single individual genome is not enough to represent the species full genomic content. Third-generation sequencing technologies have recently made it possible to generate very high quality assemblies that should enable to elucidate unique and/or complex phenotype determinisms depending on genetic structural variations. In the SeqOccin project, nine goat breeds were selected to represent French goat genetic diversity: Alpine, Boer, Creole, Fosses, Poitevine, Provencale, Pyreneenne, Rove and Saanen. High-molecular-weight DNA was extracted from blood samples and subjected to long read whole-genome sequencing. There reads were used to generate de novo assemblies and were aligned onto the public reference to call structural variants. PacBio HiFi and parental Illumina reads were used to assemble phased haplotypes of the Alpine breed. For the other breeds, PacBio raw (CLR) or ONT reads were generated. Our work demonstrates the feasibility of assembling genomes with a reasonable amount of data and appropriate software packages, delivering one high-quality assembly and 8 standard goat assemblies that pave the way for pangenome construction and structural variant functional studies.

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Gene model for the ortholog of DENR in Drosophila pseudoobscura

Lawson, M. E.; Sanow, K.; Fratian, M.; Matura, M.; Scanlon, R.; Richard, M.; Nakhla, M.; Rele, C. P.; Thompson, J. S.; Findlay, G. D.; O'Rourke, K. S.

2026-08-11 genomics 10.64898/2026.08.11.744233 medRxiv
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Gene model for the ortholog of Density regulated protein (DENR) in the Apr. 2013 (BCM-HGSC Dpse_3.0/DpseGB3) Genome Assembly (GenBank Accession: GCA_000001765.2) of Drosophila pseudoobscura. This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

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Breedbase 2.0 - expanding the functionality for traditional breeding and transgenics

Karaikal, S. K.; Preble, R.; Waring, D. J.; Simoes, C. C.; Tecle, I. Y.; Menda, N.; Tantikanjana, T.; Zhang, J.; Eaton, K.; Corak, K.; Birkett, C.; Krill Brown, A.; Feldmann, M.; Lamm, C.; Thieme, M.; Peteti, P.; Manching, H.; Powell, A.; Hulse-Kemp, A. M.; Jannink, J.-L.; Mueller, L. A.

2026-10-03 bioinformatics 10.64898/2026.09.28.755108 medRxiv
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Breedbase ( is a comprehensive, web-based, open-source breeding management and analysis software for plant breeding that was introduced to address gaps with existing software for plant breeding data. Breedbase is continually improved and developed, with new features being added as required by the breeding community. Since its inception, the capabilities of Breedbase were improved to better serve the diverse data modeling needs of additional crops beyond our original ensemble of cassava, banana, yam, sweet potato, tomato, rice, and wheat. We describe here major updates that have been made in the past 4 years, including (1) improved handling of repetitive measurements; (2) a redesigned experimental treatments interface; (3) a more fine-grained user permission system; (4) improved trial quality control workflows; (5) intercropping support; (6) the addition of a decision meeting feature that helps decision makers make the best selection with the available data; (7) transgenics and tracking tools and finally, (8) an improved field layout tool which consolidates several trials in one field. These new features integrate seamlessly with the previous feature set of Breedbase - making it one of the most feature rich breeding management softwares available.

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Cromosomal genomes assemblies of twelve sheep breeds

ECHE, C.; Birdes, C.; Marcuzzo, C.; Sarry, J.; Suin, A.; Vernette, C.; Kuchly, C.; Gaspin, C.; Milan, D.; Donnadieu, C.; Iampietro, C.; Tosser-Klopp, G.; Klopp, C.

2026-10-11 genomics 10.64898/2026.10.08.757562 medRxiv
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The sheep research community benefits from a genome assembly that has been refined over the last 15 years. However, the rich diversity of sheep breeds suggests that a single individual genome is not enough to represent the species full genomic content. Third-generation sequencing technologies have recently made it possible to generate high quality assemblies that should enable to elucidate unique and/or complex phenotype determinisms depending on genetic structural variations. In the SeqOccin project, twelve breeds were selected to represent (mostly French) sheep genetic diversity: Basco-Bearnaise, Black Belly, Blanche du Massif Central, Corse, Ile de France, Lacaune, Manech Tete Noire, Noire du Velay, Ouessant, Rambouillet, Vendeen, Soay. High-molecular-weight DNA was extracted from blood samples and subjected to long read whole-genome sequencing. The reads were used to generate de novo assemblies and were aligned onto the public reference to call structural variants. PacBio HiFi and parental Illumina reads were used to assemble phased haplotypes of the Lacaune breed. For the other breeds, PacBio raw (CLR) or ONT reads were generated. Our work demonstrates the feasibility of assembling genomes with a reasonable amount of data and appropriate software packages, delivering one high-quality assembly and 11 standard sheep assemblies that pave the way for pangenome construction and structural variant functional studies.

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Chromosome-level assembly of the Arabian killifish as a novel biomedical model species.

Akinmusola, R. Y.; Kon, T.; Kon-Nanjo, K.; Minhas, R.; O'Neill, P.; Jeffries, A.; Shimada, Y.; Ramsdale, M.; Kudoh, T.

2026-09-17 genomics 10.64898/2026.09.15.751479 medRxiv
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The Arabian killifish (Aphaniops dispar) is an excellent model for studying human diseases such as fungal infections and cancer progression. The embryos possess a transparent chorion for live imaging and display an extended period of independent feeding (13 days post-fertilisation). They also exhibit broad thermal tolerance which enables live imaging at physiologically relevant human temperatures. However, omics resources for this species remain limited and restricts its use in genomics studies. We generated a 1.45 GB high-quality reference assembly with 24 chromosome-level scaffolds and N50 score of 60.64 Mb by combining long-read, long-range, and short-read sequencing. The A. dispar genome exhibits a high level of homozygosity (95.6%) with BUSCO gene completeness scores of 99.2% and 97.5% for the Actinopterygii and Cyprinodontiformes lineages, respectively. The genome is highly repetitive (58.7%) and the majority of these are DNA transposons. The mitochondrial genome is 81.55% similar to that of Aphanius iberus (the Spanish toothcarp), with minor structural modifications. A. dispar exhibits highly conserved synteny with Fundulus heteroclitus within the Cyprinodontoidei clade. Together, these findings provide a valuable genomic resource for comparative genomics within the teleost community.

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Optimizing genome assembly, chromosome synteny, and genetic variant discovery from Oxford Nanopore sequences of Dermacentor reticulatus ticks

Dillon, K. C.; Sprong, H.; Ronai, I.; Choudhary, S.; Grant, C.; de Paula Baptista, R.; Ray, D. A.; Glenn, T. C.

2026-09-24 genomics 10.64898/2026.09.18.752137 medRxiv
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Generating high-quality genome assemblies for small animals with large genomes is complex due to their small body size, DNA contamination, and repetitive elements. Ticks exemplify these complexities, while also being a global health threat to humans, domestic animals, and wildlife. Advances in long-read sequencing platforms now make it feasible to obtain large amounts of raw sequence data from individual specimens, but challenges remain. Key genome workflow challenges include error correction, assembly, transposable element annotation, and chromosome assignment and synteny. Here we examine three individual Dermacentor reticulatus ticks using deep Oxford Nanopore sequencing. Comparing and contrasting bioinformatic tools for raw read and assembly manipulation allows us to identify the parameters that provide a high-quality haploid genome assembly among 38 assemblies. We find Dorado error corrected raw read data from approximately two flow cells are needed, but limiting assembly coverage to 40x produces the highest quality assemblies. Then we examined the effects of optimal workflow parameters on downstream analyses of gene synteny and manual transposable element annotation of the three tick assemblies in comparison to an independent assembly of a fourth D. reticulatus individual from a different country. Gene synteny analysis allows chromosome assignment of scaffolds and transposable element identification was improved markedly with manual curation. Finally, we compared the genetic variation of D. reticulatus across two populations and found similar genetic diversity. Our study provides a clear workflow to obtain high-quality assemblies from Oxford Nanopore sequences and genetic characterization of a species with a large, complex, and repetitive genome.

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HapSolo2: GPU-accelerated optimization for removing secondary haplotigs from diploid genome assemblies

Yin, J.; Agrawal, M.; Goel, P.; Solares, E. A.

2026-10-08 bioinformatics 10.64898/2026.10.02.756147 medRxiv
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BackgroundSecondary haplotigs retained in a primary assembly inflate genome size and duplicate gene content, and their removal remains a necessary curation step for heterozygous diploid genomes. HapSolo (Solares et al. 2021) treats this step as an optimization problem: it searches three pairwise alignment thresholds (percent identity, query coverage, and the ratio of aligned query to aligned reference length) to minimize a cost defined over single-copy, duplicated, and missing conserved orthologs. The original implementation depended on a separate BUSCO v3 run for every contig, on Python 2.7 and pandas in its inner loop, on a single randomized forward-walk optimizer, and on OrthoDB v9 lineage datasets that are no longer distributed. ResultsHere we report HapSolo2, a reimplementation that replaces the per-contig BUSCO step with miniprot-based ortholog classification against OrthoDB v9, v10, or v12.2 lineage datasets, adds steepest descent and simulated annealing to the original random forward walk, and evaluates all walkers in batched CuPy array operations on a single GPU. On an avocado assembly of 5,122 contigs scored against 1,440 orthologs, 100,000 iterations of random walk and steepest descent ran 5.6- and 7.6-fold faster on one NVIDIA RTX A6000 than on 10 CPU processes. Across 45 runs on four diploid assemblies (Anopheles funestus, Persea americana, Vitis vinifera, and Amblyraja radi-ata; 212 Mb to 3.2 Gb) and three OrthoDB releases, the three optimizers reached best costs within 1.8% of one another. Independent assessment with BUSCO v6.1 showed that HapSolo2 reduced duplicated orthologs from 52.0% to 5.6% in P. americana, from 17.9% to 10.4% in V. vinifera, and from 7.8% to 2.8% in A. funestus, with completeness decreasing by at most 1.3 percentage points. On the avocado assembly, HapSolo2 reduced the cost reached by the original HapSolo from 0.2200 to 0.1036 and raised contig N50 from 3,366 kb to 4,608 kb. ConclusionsHapSolo2 makes ortholog-guided haplotig removal practical in minutes on a single workstation, independent of a BUSCO installation, and reproducible across OrthoDB releases. It is distributed as an installable Python package with a unified command-line pipeline, an assembly statistics and plotting tool, an Apptainer container, and archived copies of the legacy ortholog datasets.

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Bridging Morphology and Genomics: A rapid image-based assessment of genomic admixture in the endangered gayal (Bos frontalis)

Ma, J.; Chen, Y.; Guo, Z.; Xiao, J.; Wu, H.; Luo, J.; Zhang, Y.-p.; Li, Y.

2026-08-25 zoology 10.64898/2026.08.25.746947 medRxiv
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Abstract The gayal (Bos frontalis) is an endangered semi-domesticated bovine species renowned for its high-quality beef. However, its semi-feral lifestyle, ongoing habitat fragmentation, and extensive genetic introgression from sympatric local cattle have led to dramatic population decline and severe erosion of purebred genetic integrity, posing substantial challenges to its conservation and utilization. To address the urgent demand for rapid, non-invasive, and field-compatible germplasm identification, we developed an integrated artificial intelligence (AI) framework that predicts genomic admixture composition from external morphological images. We constructed a comprehensive dataset comprising 6,245 morphological images and matched genomic sequences from 52 gayals maintained at the Yunnan Provincial Gayal Conservation Farms. Following a preliminary evaluation of nine deep learning models, five were incorporated into a anatomical segment-based multi-modal pipeline, among which Inception_V3 delivered the optimal overall performance. To enhance simultaneous extraction of local fine-grained features and global structural information, we further designed an innovative HybridInceptionViT model by integrating the multi-scale Inception module with the Vision Transformer (ViT) framework. This hybrid model significantly outperformed the baseline Inception_V3, boosting the accuracy of phenotype-derived prediction against genomic admixture estimate from 69.69% to 87.87% (absolute error <15%). This study establishes a practical, low-cost "phenotype-to-genotype" tool for rapid on-site gayal germplasm screening, offering a scalable strategy for the conservation and breeding management of endangered livestock, and holds broad application prospects for agricultural and livestock production systems.

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Transcriptome analysis reveals CCND2 promotes myogenic differentiation of pig skeletal muscle

Li, J.; Zhang, J.; Song, Q.; Li, S.; Zeng, Y.; Chen, W.

2026-09-22 genomics 10.64898/2026.09.16.752030 medRxiv
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ABSTRACT Objective: Skeletal muscle growth rate differs substantially among diverse pig breeds. In the present study, RNA-seq was performed to identify differentially expressed genes (DEGs) across pig breeds with distinct growth rates. CCND2 showed obvious differential expression among pig breeds. Although CCND2 is essential for cell cycle control, its biological function in skeletal muscle differentiation has rarely been reported. This work aims to identify DEGs in pig breeds with different growth rates and explore CCND2 role in porcine skeletal muscle development. Methods: RNA-seq was performed to identify differentially expressed genes (DEGs) across pig breeds with distinct growth rates. Weighted gene co-expression network analysis (WGCNA) was used to identify gene modules potentially associated with skeletal muscle growth and development. Quantitative reverse transcription polymerase chain reaction (qRT-PCR) analysis was performed to validate the role of CCND2 in skeletal muscle differentiation. Results We identified 5,416, 4,846, and 2,777 DEGs in the Duroc pig (DU) vs. Jiangquan black pig (JQ), DU vs. Laiwu pigs (LW), and JQ vs. LW comparison groups, respectively. WGCNA identified two gene modules (lightgreen and darkmagenta) potentially associated with skeletal muscle growth and development. CCND2 exhibited differential expression in comparisons between DU vs JQ and DU vs LW, with higher expression observed in Duroc pigs. qRT-PCR analysis revealed that overexpression of CCND2 at day 6 (D6) of cell differentiation significantly increased the expression levels of CCND2 gene and markers of myogenic differentiation (p < 0.05). Conversely, knockdown of CCND2 significantly decreased the expression levels of CCND2 gene and myogenic differentiation markers (p < 0.05). Conclusions This study identified breed-specific DEGs and key gene modules in porcine skeletal muscle and verified that CCND2 promotes myogenic differentiation. These findings provide a genetic theoretical basis for further investigations into skeletal muscle growth and development. Keywords pig, skeletal muscle, transcriptome, WGCNA, CCND2