Tag: long-read sequencing

Researchers have identified covert deletions of the proximal FXN gene that standard testing mistakes for identical repeat expansions, revealing a ...

A new review explains how DNA methylation episignatures provide functional evidence of disease mechanism in rare genetic disorders, helping resolve ...

A new clinical study shows that third-generation long-read sequencing matches conventional tests perfectly while revealing hidden carrier risks and gene ...

Researchers at the Coriell Institute have created a publicly available iPSC resource with HiFi long-read whole-genome sequencing, pharmacogenomic and HLA ...

A new Gordon and Betty Moore Foundation-funded collaboration led by the Earlham Institute with SAMS, CCAP, and Aalborg University aims ...

A new chromosome-level genome assembly of the white jade snail reveals conserved genomic architecture relative to wild Achatina fulica, while ...

A pedigree-based study of 177 individuals shows that nanopore long-read sequencing and Illumina short-read sequencing each excel at different forensic ...

Long-read direct RNA sequencing of the rat hippocampal CA1 reveals that male and estrus-phase female rats distribute RNA isoforms differently ...

Using gap-less long-read genome assemblies and 88 diverse human haplotypes, researchers have mapped G-quadruplex DNA structures across the complete human ...

Researchers have developed RecAlign, an A*-based sequence-to-graph aligner that efficiently handles recombination events and enables recombination-aware long-read mapping against chromosome-wide ...