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Results for “Genome assembly”

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At least 289 records · Page 16Linked to original sources
PubMed2025

The genome sequence of the Titania's Fritillary, Boloria titania (Esper, 1793) (Lepidoptera: Nymphalidae).

We present a genome assembly from a female specimen of Boloria titania (Titania's Fritillary; Arthropoda; Insecta; Lepidoptera; Nymphalidae). The assembly contains two haplotypes with total lengths of 496.64 megabases and 454.08 megabases. Most of haplotype 1 (97.13%) is scaffolded into 32 chromosomal pseudomolecules, including the W and Z sex chromosomes. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.17 kilobases.

Boloria titania↗
PubMed2026

The genome sequence of the Southern Grizzled Skipper, Pyrgus malvoides (Elwes & Edwards, 1897) (Lepidoptera: Hesperiidae).

We present a genome assembly from a male specimen of Pyrgus malvoides (Southern Grizzled Skipper; Arthropoda; Insecta; Lepidoptera; Hesperiidae). The assembly contains two haplotypes with total lengths of 746.71 megabases and 747.11 megabases. Most of haplotype 1 (99.8%) is scaffolded into 31 chromosomal pseudomolecules, including the Z sex chromosome. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.41 kilobases. Gene annotation of this assembly on Ensembl identified 14,715 protein-coding genes.

Lepidoptera↗
PubMed2025

The genome sequence of the de Prunner's Ringlet, Erebia triaria von Prunner, 1798 (Lepidoptera: Nymphalidae).

We present a genome assembly from a female specimen of Erebia triaria (de Prunner's Ringlet; Arthropoda; Insecta; Lepidoptera; Nymphalidae). The assembly contains two haplotypes with total lengths of 521.30 megabases and 412.03 megabases. Most of haplotype 1 (99.7%) is scaffolded into 17 chromosomal pseudomolecules, including the Z 1, Z 2, and W sex chromosomes. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.26 kilobases.

Erebia triaria↗
PubMed2026

The genome sequence of the Red-underwing Skipper, Spialia sertorius (Hoffmannsegg, 1804) (Lepidoptera: Hesperiidae).

We present a genome assembly from a female specimen of Spialia sertorius (Red-underwing Skipper; Arthropoda; Insecta; Lepidoptera; Hesperiidae). The assembly contains two haplotypes with total lengths of 364.57 megabases and 323.91 megabases. Most of haplotype 1 (99.92%) is scaffolded into 32 chromosomal pseudomolecules, including the W and Z sex chromosomes. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.34 kilobases. Gene annotation of this assembly on Ensembl identified 12,823 protein-coding genes.

Lepidoptera↗
PubMed2026

The genome sequence of the Shepherd's Fritillary, Boloria pales (Denis & Schiffermüller), 1775 (Lepidoptera: Nymphalidae).

We present a genome assembly from a female specimen of Boloria pales (Shepherd's Fritillary; Arthropoda; Insecta; Lepidoptera; Nymphalidae). The assembly contains two haplotypes with total lengths of 382.99 megabases and 364.88 megabases. Most of haplotype 1 (99.96%) is scaffolded into 30 chromosomal pseudomolecules, including the Z sex chromosome. Haplotype 2 was assembled to scaffold level. The mitochondrial genome has also been assembled, with a length of 15.17 kilobases. Gene annotation of this assembly on Ensembl identified 12,117 protein-coding genes.

Boloria pales↗
PubMed2026

The genome sequence of Cardamine flexuosa With., 1796 (Brassicales: Brassicaceae).

We present a genome assembly of Cardamine flexuosa (Wavy Bitter-cress; Streptophyta; Magnoliopsida; Brassicales; Brassicaceae). The genome sequence has a total length of 204.54 megabases. Most of the assembly (97.53%) is scaffolded into 8 chromosomal pseudomolecules. The mitochondrial sequence has a length of 299.98 kilobases and the plastid genome assembly has a length of 153.92 kilobases. Gene annotation of this assembly on Ensembl identified 24 305 protein-coding genes. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Brassicales↗
PubMed2026

The genome sequence of Sphagnum contortum Schultz, 1819 (Sphagnales: Sphagnaceae).

We present a genome assembly of Sphagnum contortum (twisted bog-moss; Streptophyta; Sphagnopsida; Sphagnales; Sphagnaceae). The genome sequence has a total length of 370.55 megabases. Most of the assembly (99.46%) is scaffolded into 21 chromosomal pseudomolecules. The mitochondrial sequence has a length of 141.7 kilobases and the plastid genome assembly has a length of 140.11 kilobases. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Sphagnales↗
PubMed2026

The genome sequence of Sphagnum tenellum (Brid.) Bory, 1819 (Sphagnales: Sphagnaceae).

We present a genome assembly of Sphagnum tenellum (soft bog-moss; Streptophyta; Sphagnopsida; Sphagnales; Sphagnaceae). The genome sequence has a total length of 386.16 megabases. Most of the assembly (98.04%) is scaffolded into 21 chromosomal pseudomolecules. The mitochondrial sequence has a length of 141.31 kilobases and the plastid genome assembly has a length of 140.16 kilobases. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Sphagnales↗
PubMed2026

The genome sequence of Hyocomium armoricum (Brid.) Wijk & Margad. (Hypnales: Hypnaceae).

We present a genome assembly of Hyocomium armoricum (Flagellate Feather-moss; Streptophyta; Bryopsida; Hypnales; Hypnaceae). The genome sequence has a total length of 333.60 megabases. Most of the assembly (99.59%) is scaffolded into 11 chromosomal pseudomolecules. The mitochondrial sequence has a length of 104.43 kilobases and the plastid genome assembly has a length of 123.84 kilobases. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Flagellate Feather-moss↗
PubMed2026

Genomes of Conopholis americana and Epifagus virginiana: two holoparasitic plants (Orobanchaceae).

Conopholis americana (American cancer-root) and Epifagus virginiana (beechdrops) are sister genera of holoparasitic plants (Orobanchaceae) native to eastern North America, parasitizing oaks and American beech, respectively. Both have served as models for plastid genome reduction, yet no nuclear genomes exist for either genus or any New World holoparasitic Orobanchaceae. Here we present the first nuclear genome assemblies for both species using PacBio HiFi sequencing. The C. americana assembly totals 1.82 Gb and E. virginiana totals 440 Mb, representing an approximately 4-fold difference in genome size between these sister genera. We observed a BUSCO completeness of 79% to 80% in both species, which is typical of holoparasites. While gene prediction identified 33,889 genes in C. americana and 21,031 in E. virginiana, repeat annotation revealed that LTR retrotransposons account for 78% of the genome size difference. These assemblies reveal contrasting mechanisms of genome evolution in sister holoparasitic genera and provide foundational resources for comparative genomics of parasitic plants.

Genome, Plant↗
PubMed2003

A statistical approach designed for finding mathematically defined repeats in shotgun data and determining the length distribution of clone-inserts.

The large amount of repeats, especially high copy repeats, in the genomes of higher animals and plants makes whole genome assembly (WGA) quite difficult. In order to solve this problem, we tried to identify repeats and mask them prior to assembly even at the stage of genome survey. It is known that repeats of different copy number have different probabilities of appearance in shotgun data, so based on this principle, we constructed a statistical model and inferred criteria for mathematically defined repeats (MDRs) at different shotgun coverages. According to these criteria, we developed software MDRmasker to identify and mask MDRs in shotgun data. With repeats masked prior to assembly, the speed of assembly was increased with lower error probability. In addition, clone-insert size affect the accuracy of repeat assembly and scaffold construction, we also designed length distribution of clone-inserts using our model. In our simulated genomes of human and rice, the length distribution of repeats is different, so their optimal length distributions of clone-inserts were not the same. Thus with optimal length distribution of clone-inserts, a given genome could be assembled better at lower coverage.

Animals↗
PubMed2005

Comparative analysis of BAC and whole genome shotgun sequences from an Anopheles gambiae region related to Plasmodium encapsulation.

The only natural mechanism of malaria transmission in sub-Saharan Africa is the mosquito, generally Anopheles gambiae. Blocking malaria parasite transmission by stopping the development of Plasmodium in the insect vector would provide a useful alternative to the current methods of malaria control. Toward this end, it is important to understand the molecular basis of the malaria parasite refractory phenotype in An. gambiae mosquito strains. We have selected and sequenced six bacterial artificial chromosome (BAC) clones from the Pen-1 region that is the major quantitative trait locus involved in Plasmodium encapsulation. The sequence and the annotation of five overlapping BAC clones plus one adjacent, but not contiguous clone, totaling 585kb of genomic sequence from the centromeric end of the Pen-1 region of the PEST strain were compared to that of the genome sequence of the same strain produced by the whole genome shotgun technique. This project identified 23 putative mosquito genes plus putative copies of the retrotransposable elements BEL12 and TRANSIBN1_AG in the six BAC clones. Nineteen of the predicted genes are most similar to their Drosophila melanogaster homologs while one is more closely related to vertebrate genes. Comparison of these new BAC sequences plus previously published BAC sequences to the cognate region of the assembled genome sequence identified three retrotransposons present in one sequence version but not the other. One of these elements, Indy, has not been previously described. These observations provide evidence for the recent active transposition of these elements and demonstrate the plasticity of the Anopheles genome. The BAC sequences strongly support the public whole genome shotgun assembly and automatic annotation while also demonstrating the benefit of complementary genome sequences and of human curation. Importantly, the data demonstrate the differences in the genome sequence of an individual mosquito compared to that of a hypothetical, average genome sequence generated by whole genome shotgun assembly.

Amino Acid Sequence↗
PubMed2005

Applications of the double-barreled data in whole-genome shotgun sequence assembly and analysis.

Double-barreled (DB) data have been widely used for the assembly of large genomes. Based on the experience of building the whole-genome working draft of Oryza sativa L. ssp. Indica, we present here the prevailing and improved uses of DB data in the assembly procedure and report on novel applications during the following data-mining processes such as acquiring precise insert fragment information of each clone across the genome, and a new kind of low-cost whole-genome microarray. With the increasing number of organisms being sequenced, we believe that DB data will play an important role both in other assembly procedures and in future genomic studies.

Cloning, Molecular↗
PubMed2026

Chromosome-Level Reference Genome of the Desert Night Lizard Xantusia vigilis.

We present a reference-quality genome assembly for the desert night lizard (Xantusia vigilis). The night lizards (Xantusiidae) are a family of small-bodied lizards found in North America (Xantusia), Central America (Lepidophyma), and Cuba (Cricosaura). The night lizard family has an independent evolutionary history of at least 80 million years from its sister taxa within Scincoidea. The Xantusiids have several unique ecological, behavioral and evolutionary characteristics. For instance, the family contains the only squamate species that form diploid, unisexual, parthenogenic lineages. In addition, most night lizards are viviparous and form stable kin groups that are maintained over multiple years, an unusual life history strategy among lizards. Combining PacBio long-read sequencing, Hi-C, and RNAseq data we developed a reference-quality genome for the desert night lizard, X. vigilis. We assembled a complete mitochondrion and ~ 2.2 Gb nuclear genome, with 20 scaffolds that correlate in size to the X. vigilis karyotype. In addition, we found that X. vigilis chromosome 1 aligns with gene content of both of macrochromosome 1 and microchromosome 9 from a genome assembly of a species in the sister family Cordylidae (Hemicordylus capensis).

Xantusia↗
PubMed2003

Recent segmental and gene duplications in the mouse genome.

BACKGROUND: The high quality of the mouse genome draft sequence and its associated annotations are an invaluable biological resource. Identifying recent duplications in the mouse genome, especially in regions containing genes, may highlight important events in recent murine evolution. In addition, detecting recent sequence duplications can reveal potentially problematic regions of the genome assembly. We use BLAST-based computational heuristics to identify large (>/= 5 kb) and recent (>/= 90% sequence identity) segmental duplications in the mouse genome sequence. Here we present a database of recently duplicated regions of the mouse genome found in the mouse genome sequencing consortium (MGSC) February 2002 and February 2003 assemblies. RESULTS: We determined that 33.6 Mb of 2,695 Mb (1.2%) of sequence from the February 2003 mouse genome sequence assembly is involved in recent segmental duplications, which is less than that observed in the human genome (around 3.5-5%). From this dataset, 8.9 Mb (26%) of the duplication content consisted of 'unmapped' chromosome sequence. Moreover, we suspect that an additional 18.5 Mb of sequence is involved in duplication artifacts arising from sequence misassignment errors in this genome assembly. By searching for genes that are located within these regions, we identified 675 genes that mapped to duplicated regions of the mouse genome. Sixteen of these genes appear to have been duplicated independently in the human genome. From our dataset we further characterized a 42 kb recent segmental duplication of Mater, a maternal-effect gene essential for embryogenesis in mice. CONCLUSION: Our results provide an initial analysis of the recently duplicated sequence and gene content of the mouse genome. Many of these duplicated loci, as well as regions identified to be involved in potential sequence misassignment errors, will require further mapping and sequencing to achieve accuracy. A Genome Browser database was set up to display the identified duplication content presented in this work. This data will also be relevant to the growing number of investigators who use the draft genome sequence for experimental design and analysis.

Animals↗
PubMed2025

The genome sequence of Greek sea-spurrey, Spergularia bocconei (Scheele) Graebn. (Caryophyllaceae).

We present a genome assembly from a specimen of Spergularia bocconei (Greek sea-spurrey; Streptophyta; Magnoliopsida; Caryophyllales; Caryophyllaceae). The genome sequence has a total length of 466.20 megabases. Most of the assembly is scaffolded into 18 chromosomal pseudomolecules suggesting the individual is an allotetraploid (2 n = 4 x = 36). The mitochondrial and plastid genome assemblies have lengths of 327.07 kilobases and 152.41 kilobases, respectively.

Boccone's sea-spurrey↗
PubMed2003

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.

BACKGROUND: Previous studies have suggested that recent segmental duplications, which are often involved in chromosome rearrangements underlying genomic disease, account for some 5% of the human genome. We have developed rapid computational heuristics based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome assemblies. RESULTS: Our analysis of the June 2002 public human genome assembly revealed that 107.4 of 3,043.1 megabases (Mb) (3.53%) of sequence contained segmental duplications, each with size equal or more than 5 kb and 90% identity. We have also detected that 38.9 Mb (1.28%) of sequence within this assembly is likely to be involved in sequence misassignment errors. Furthermore, we have identified a significant subset (199,965 of 2,327,473 or 8.6%) of single-nucleotide polymorphisms (SNPs) in the public databases that are not true SNPs but are potential paralogous sequence variants. CONCLUSION: Using two distinct computational approaches, we have identified most of the sequences in the human genome that have undergone recent segmental duplications. Near-identical segmental duplications present a major challenge to the completion of the human genome sequence. Potential sequence misassignments detected in this study would require additional efforts to resolve.

Artifacts↗
PubMed2025

Five-Year (2017-2022) Evolutionary Dynamics of Human Coronavirus HKU1 in Southern France With Emergence of Viruses Harboring Spike H512R Substitution.

HCoV-HKU1 diversity and evolution were scarcely studied. We performed next-generation sequencing (NGS) and analysis of HCoV-HKU1 genomes over 5 years. NGS used Illumina technology on NovaSeq 6000 following whole genome PCR amplification by an in-house set of primers designed using Gemi and PrimalScheme. Genome assembly and analyses used CLC Genomics, Mafft, BioEdit, Nextstrain, Nextclade, MEGA, and iTol bioinformatic tools. Spike molecular modeling and dynamics simulations used Molegro Molecular Viewer and Hyperchem programs. Twenty-eight PCR systems allowed obtaining 158 HCoV-HKU1 genomes including 69 and 89 of genotypes A and B, respectively. Both genotypes co-circulated during the study period but one predominated each year. A total of 1683 amino acid substitutions including 80 in ≥ 10 genomes were detected in genotype A relatively to a 2004 reference. H512R in spike, first detected in 2009 and reported as involved in antibody neutralization, was found in all genotype A, almost always with V387I and K478N, and was predicted here to significantly improve cellular TMPRSS2 protein binding. Also, 1802 amino acid substitutions including 64 in ≥ 10 genomes were detected in genotype B relatively to a 2005 reference. This study substantially expands the global set of HCoV-HKU1 genomes. Genomics with protein structural analyses contributed to our understanding of HCoV-HKU1 evolution.

Humans↗