Tag: long-read sequencing

Long-read multi-omics sequencing of a severe GPI deficiency case has uncovered a candidate dual-effect variant that may simultaneously destabilize an ...

Chilean researchers have developed and clinically validated a nine-stage Oxford Nanopore bioinformatic pipeline that detects PKD1 variants with complete Sanger ...

A new computational tool shows that structural variants, despite making up less than 0.6 percent of analyzed variants, account for ...

The new SVPG method uses pangenome graphs to detect structural variants accurately from long-read sequencing data while rapidly incorporating new ...

Leading genome researchers have published a practical guide in Nature Reviews Molecular Cell Biology explaining how single-molecule genomics can reveal ...

A new study shows that short-read RNA sequencing systematically underestimates A-to-I RNA editing levels compared with long-read cDNA sequencing, largely ...

Researchers used long-read genome sequencing and RNA analysis to diagnose a rare hereditary ataxia caused by biallelic VPS41 variants, expanding ...

In a groundbreaking advancement poised to revolutionize our understanding and diagnosis of myotonic dystrophy type 1 (DM1), researchers have unveiled ...

In an age where microbial exploration shapes our understanding of Earth's ecosystems, a groundbreaking study published in Nature Microbiology in ...