Tag: long-read sequencing

A new review argues that cheap, high-quality genome sequencing is revealing how gene gains, losses, duplications and horizontal transfers drive ...

Taxonova, a deep learning classifier, achieved high species-level accuracy across short- and long-read ribosomal amplicons in benchmark tests.

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 of 100 donor blood samples shows intronic (TG)n repeats in the CD36 gene are tightly linked to variant ...

A new mini-review argues that long-read sequencing is exposing repetitive DNA, extrachromosomal DNA and complex structural variation that conventional methods ...

Researchers have introduced HALE, an NP-hard optimization-based algorithm that corrects long-read sequencing errors while preserving haplotype-specific variation, matching the accuracy ...

A review of matched-sample benchmarking studies finds standard RNA-seq recovers only 3–5% of TCR clonotypes identified by dedicated TCR-seq.

A study of 13 Chinese children with Angelman syndrome identified three novel UBE3A variants and used PacBio long-read sequencing to ...

Long-read sequencing of clinical multidrug-resistant tuberculosis isolates has revealed a previously undescribed 131-base-pair deletion in the ethA gene that functionally ...

Long-read sequencing of ten rice cultivars bred between 1882 and 2011 shows conserved mitochondrial genome structures within breeding lineages, repeat-mediated ...