Development of long-read sequencing for diagnosis of DNA repeat expansion disorders

2023-04-06

In a joint technology development project (TDP) funded by SciLifeLab, Clinical Genomics Uppsala and the National Genomics Infrastructure (NGI) develop targeted long-read sequencing towards clinical practice. 

“We zoom in on parts of the genome where it is known that repetitive DNA can cause disease such as Huntington’s disease, ALS or different ataxias. In some of these examples, a triplet code may be amplified several thousand times, with regular short-read sequencing, it is difficult to decide how many repeats there actually are – something that may be significant for a disease diagnosis”, says Ida Höijer, Clinical Genomics Uppsala and NGI. 

In collaboration with Genomic Medicine Sweden, work is ongoing to get long-read sequencing for diagnosis of DNA repeat expansion disorders into the clinic as a diagnostic test.

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News article from SciLifeLab

Last modified: 2024-02-23