Complex chromosomal abnormalities solved with long-read sequencing
Using long-read sequencing, which allows DNA to be analyzed in much greater detail, a team of Swedish clinicians and researchers has discovered an unexpected complexity in chromosomal abnormalities in patients with rare diseases. The study holds promise for more precise and effective diagnostics of patients with rare diseases.
For patients with rare diseases caused by complex chromosomal abnormalities, current methods for genetic diagnostics have been insufficient. Long-read sequencing enables analysis of DNA sequences up to 50 times longer than what is possible with current diagnostic methods, providing a much deeper insight into the genetic profile of patients. In the study, 13 out of 16 chromosomal abnormalities analysed could be resolved at the nucleotide level. Another important finding was that DNA prepared using standard clinical methods can be effectively used for long-read sequencing, facilitating the integration of long-read sequencing into routine healthcare.
Photo: David Naylor
Long-read sequencing has great potential for clinical use, and we expect several new applications of this technology to be implemented in healthcare within the next years. This is also one of the prioritized development areas at the national Clinical Genomics platform, and our node in Uppsala is coordinating the long-read sequencing efforts within the platform, says Malin Melin, head of Clinical Genomics Uppsala and co-author of the study.
The study, led by researchers at Karolinska Institutet and Uppsala University, is a broad collaboration between the Genomic Medicine Sweden working group for Rare Diseases, the Clinical Genomics platform and National Genomics Infrastructure.
Read more about the study in the full news article from Genomic Medicine Sweden
Publication
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities. Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Genome Res. 2024 Oct 29.