Gene Gains and Losses Shape Arthropod Evolution, Genomic Survey Finds
A new review argues that cheap, high-quality genome sequencing is revealing how gene gains, losses, duplications and horizontal transfers drive ...
Tag: long-read sequencing
Deep learning tool Taxonova classifies microbiome species from short and long amplicon reads
Taxonova, a deep learning classifier, achieved high species-level accuracy across short- and long-read ribosomal amplicons in benchmark tests.
One Blood Test, Two Answers: Nanopore Sequencing Reads Genes and Methylation Together
Nanopore long-read sequencing that simultaneously reads genetic variants and DNA methylation resolved three difficult KMT2B-related dystonia diagnoses, confirming one uncertain ...
Long-read sequencing links intronic TG repeats to CD36 deficiency patterns
Long-read sequencing of 100 donor blood samples shows intronic (TG)n repeats in the CD36 gene are tightly linked to variant ...
Long-read sequencing reveals the hidden genome of ovarian cancer
A new mini-review argues that long-read sequencing is exposing repetitive DNA, extrachromosomal DNA and complex structural variation that conventional methods ...
New algorithm preserves haplotype diversity while correcting long-read sequencing errors
Researchers have introduced HALE, an NP-hard optimization-based algorithm that corrects long-read sequencing errors while preserving haplotype-specific variation, matching the accuracy ...
RNA-seq Falls Short for TCR Repertoire Recovery, Review Finds
A review of matched-sample benchmarking studies finds standard RNA-seq recovers only 3–5% of TCR clonotypes identified by dedicated TCR-seq.
Long-read sequencing expands the genetic picture of Angelman syndrome in Chinese children
A study of 13 Chinese children with Angelman syndrome identified three novel UBE3A variants and used PacBio long-read sequencing to ...
Long-read sequencing uncovers a novel ethA deletion driving ethionamide resistance in multidrug-resistant tuberculosis
Long-read sequencing of clinical multidrug-resistant tuberculosis isolates has revealed a previously undescribed 131-base-pair deletion in the ethA gene that functionally ...
Research report: Historical breeding reveals graph-based structure dynamics and intracellular DNA transfer in rice mitogenome
Long-read sequencing of ten rice cultivars bred between 1882 and 2011 shows conserved mitochondrial genome structures within breeding lineages, repeat-mediated ...
Genomics Moves From Variant Discovery to Precision Diagnosis Across Rare and Common Disease
A sweeping editorial on a 2024–2025 research collection describes how long-read sequencing, newborn screening, population genomics, and functional studies are ...
Native long reads reveal dimeric plasmid and fragmented prophages in Wolbachia
A PCR-free Oxford Nanopore sequencing approach applied to single mosquito ovaries has produced the first near-complete Wolbachia genome from Culex ...
Long-Read DNA Sequencing Uncovers Hidden Cancer Drivers Missed by Standard Tests
University of Michigan researchers used long-read nanopore sequencing to resolve hidden cancer-driving alterations in tumors and to trace the origin ...
Random-Forest Phasing Tool Nearly Doubles Contiguity of Diploid Genome Assemblies
The alignment-free phasing tool RFhap used multi-scale parental k-mers and a random forest classifier to nearly double corrected haplotype NG50 ...
Genomic resistance predictions need biological context, review finds
A 2026 mini-review finds that antimicrobial-resistance predictions become more reliable when gene presence is combined with expression, dosage, genomic context ...
Mechanical overload elicits weaker transcript isoform switching in aged mouse muscle
Mouse muscle subjected to mechanical overload showed extensive transcript isoform switching in adulthood, but the early response was attenuated in ...
New Tool Reads antimicrobial resistance Genes Straight From Long Sequencing Reads
A new tool called Amira uses gene-space de Bruijn graphs to accurately detect single and multi-copy antimicrobial resistance genes directly ...
Genomic Imprinting’s Hidden Role in Cancer: New Methods Tackle Loss of Imprinting
A new review highlights how loss of imprinting drives tumour growth and why emerging single-cell, spatial, and long-read methods may ...
Full ribosomal operon sequencing finally cracks the family tree of anaerobic gut fungi
Long-read sequencing of the complete ribosomal RNA operon across 156 isolates of anaerobic gut fungi reveals new genetic markers that ...
Scientists Map Hidden DNA Switches Behind Rapeseed’s Industrial Oil Boost
A high-quality long-read genome assembly of high-erucic-acid rapeseed reveals validated structural variants in key fatty acid metabolism genes, opening new ...
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