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10021 results

Full text 2025

Genetic and <i>in silico</i> functional characterization of a novel structural variant in the <i>PAH</i> gene by long-reads sequencing and structural modeling

Gallardo V, Gaete A, Maldonado J, et al.

<h4>Introduction</h4>Phenylketonuria (PKU) is an inherited metabolic disorder caused by biallelic variants in the <i>PAH</i> gene, leading to phenylalanine accumulation and progressive neuronal damage. Over 3,000 variants have been described worldwide; however, a previously unreported exon …

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Nanopore Sequencing
Full text 2026

Efficient near-telomere-to-telomere assembly of nanopore simplex reads

Cheng H, Qu H, McKenzie S, et al.

Telomere-to-telomere (T2T) assembly is the ultimate goal for de novo genome assembly. Existing algorithms<sup>1,2</sup> capable of near-T2T assembly all require Oxford Nanopore Technologies (ONT) ultra-long reads, which are costly and experimentally challenging to obtain and …

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Nanopore Sequencing
Full text 2025

High-Throughput Molecular Characterization of the Microbiome in Breast Implant-Associated Anaplastic Large Cell Lymphoma and Peri-Implant Benign Seromas

Rogges E, Bertolazzi G, Vacca D, et al.

<b>Background</b>: Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a mature T-cell lymphoma linked to textured breast implants. A leading hypothesis suggests that chronic inflammation, combined with immunological and genetic factors, drives its pathogenesis. Two …

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Metagenomics
Full text 2025

Acquisition of ampliconic sequences marks a selfish mouse t-haplotype

Swanepoel CM, Wang G, Zhang L, et al.

Mendelian genetics posits equal transmission of alleles, but selfish alleles can bias the transmission of large genomic regions or entire chromosomes. One long-standing question is how transmission bias evolves to encompass large genomic regions. Mus …

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Bioinformatics
Full text 2025

Complete genome sequencing and probiotic trait analysis of &lt;i&gt;Lacticaseibacillus rhamnosus&lt;/i&gt; LR110, a human stool isolate from the NORDBIOTIC collection

Szczepankowska A, Cukrowska B, Aleksandrzak-Piekarczyk T.

We present the complete genome of <i>Lacticaseibacillus rhamnosus</i> strain LR110, a human stool isolate from the NORDBIOTIC strain collection. The genome consists of a 2,867,184-bp chromosome with 46.8% GC content. Genomic analysis revealed genes related …

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Bioinformatics
Full text 2026

Ab initio detection of multiple epitranscriptomic modifications from Oxford nanopore technology direct RNA sequencing data

Fonzino A, Fosso B, Visci G, et al.

Charting the eukaryotic epitranscriptome by direct RNA sequencing is promising but still very challenging, as current bioinformatics tools are based on modification-unaware software and require multiple modification-specific learning steps. Here, we introduce NanoSpeech, a modification-aware …

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Nanopore Sequencing Transcriptomics
Full text 2025

Transcriptomics data for muscle development in Goats

Pei Y, Xi R, Jiang W, et al.

Goats play a significant role in global livestock production and are highly valued for their meat, which is both nutritious and easily digestible. The longissimus dorsi and biceps femoris muscles are not only critical for …

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Nanopore Sequencing Transcriptomics
Full text 2025

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Akçimen F, Alvarez Jerez P, Guliyeva U, et al.

<h4>Background</h4>Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early-onset myoclonus, epilepsy, generalized tonic-clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be …

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Epigenetics Nanopore Sequencing Structural Variants
Full text 2025

Positive-Strand RNA Viruses Induce LTR Retrotransposon Transcription and Extrachromosomal Circular DNA Generation in Plants

Merkulov P, Bolotina A, Vlasova A, et al.

Mobile elements, particularly long terminal repeat retrotransposons (LTR-RTEs), are abundant and dynamic components of plant genomes. Although viral infections are known to transcriptionally activate retrotransposons, it remains unclear whether such virus-induced activation leads to their …

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Nanopore Sequencing
Full text 2026

A chromosome-scale genome assembly of Hordeum erectifolium: genomic, transcriptomic and anatomical adaptations to drought in a wild barley relative

Haraldsson EB, Anokye M, Rütjes T, et al.

Wild crop relatives are valuable genetic resources for improving stress adaptation in cultivated species, but their effective use depends on high-quality reference genomes integrated with phenotypic and molecular datasets. Hordeum erectifolium, a wild relative of …

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Structural Variants