Structural variants (SVs) reach up to the megabase scale and account for 10 times as many variants as single nucleotide polymorphisms in the human genome. They contribute to a range of normal and ...

Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.

Genetic variation describes the genotypic and phenotypic differences between individuals in a population, and between populations. This variation arises through genetic mutation and is important ...

This will deepen the scientific community’s collective understanding of genomic features like tandem repeats, structural variants and methylation ... and has played a role in the development of ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought.

14, 2025 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading provider of highly accurate long-read sequencing solutions ... including complex structural variants and DNA methylation abnormalities ...

and long-read sequencing. These include algorithmic innovations in genomic variation analysis, privacy-preserving algorithms, ...