Long-read sequencing technologies analyze long, continuous stretches of DNA. These methods have the potential to improve researchers' ability to detect complex genetic alterations in cancer genomes.

Long-read sequencing delivered conclusive diagnosis for 11 of the 42 patients in the cohort, providing everything that was known from the short-read data as well as additional information, ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

Long-read sequencing delivered conclusive diagnosis for 11 of the 42 patients in the cohort, providing everything that was known from the short-read data as well as additional information, ...

The long read sequencing covered “coding exons in ∼280 genes and ∼5 known Mendelian disease-associated genes that were not covered by SRS. It also detected “rare, ...

Long-read sequencing produces genomic data by generating individual reads ranging from 1,000 to 20,000 nucleotides or more in length, while most short-read sequencing technologies use fragments ...

Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis. Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS ...

Since the application of long read sequencing in WGS for rare disease testing is still in its early days, there are some gaps in enabling a seamless adoption. The ELRIN consortium is committed to ...

Long-read sequencing also provides direct phasing data as well as information about methylation, a chemical process in DNA that causes genes to be “turned on or off,” and can contribute to disease.

Long-read sequencing technologies analyze long, continuous stretches of DNA. These methods have the potential to improve researchers' ability to detect complex genetic alterations in cancer genomes.