"Short-read sequencing struggles with certain kinds of sequence variants, so to better capture these, we also used long-read sequencing that reads between 5,000 and 30,000 base pairs at a time and ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...

Long-read sequencing is being harnessed to improve the rate ... This is in part due to the type of testing being conducted, which utilizes short-read sequencing (SRS) to investigate the genome. SRS ...

UC Santa Cruz researchers showcase how long-read sequencing can diagnose rare genetic diseases in days instead of years.

These methods overcome some of the limitations of short-read sequencing, such as the difficulty in assembling complex genomes and resolving repetitive regions. Long-read sequencing enables the ...

Primarily, next-generation sequencing technologies operate through step-wise cycles of polymerase-based extension or oligonucleotide ligation that rely on piecing together short reads from ... for the ...

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

Illumina launched its own long-read Infinity technology last year, while PacBio has developed its short-read chemistry – called Sequencing by Binding (SBB) – which will now be combined with ...