[Resolving Genomic Mysteries with Long-read Sequencing].
WHY IT MATTERS
If you have a rare genetic disease that wasn't diagnosed by standard genetic testing, long-read sequencing may finally identify the genetic cause—potentially opening doors to targeted treatments and genetic counseling for your family.
Scientists are using a new technology called long-read sequencing that can read much longer pieces of DNA than older methods. This helps doctors find genetic causes of rare diseases that were previously missed, especially when mutations hide in repetitive parts of the genome or involve large structural changes. The technology is becoming an important tool in genetic testing labs worldwide.
[Resolving Genomic Mysteries with Long-read Sequencing]. Abstract: Short-read next-generation sequencing (srNGS, 50-300 bp) has become the predominant first-line test for diagnosing patients with rare genetic conditions. However, this technology has inherent limitations, including reduced diagnostic yield for structural variants (SVs) and variants located in repetitive or highly homologous genomic regions. Connecting variants over large genomic distances is also challenging using srNGS. In recent years, long-read sequencing (LRS, thousands up to 2 million bp) has emerged as a promising alternative for genomic testing. By enabling the sequencing of longer DNA fragments, LRS improves the analysis of repetitive regions, enhances SV detection, and facilitates the phasing of distant variants. As a result, LRS is becoming an essential tool in genetic laboratori Authors: Murik et al. Journal: Harefuah MeSH: Humans, High-Throughput Nucleotide Sequencing, Genetic Testing, Sequence Analysis, DNA, Genomics, Genome, Human, Genetic Diseases, Inborn, Rare Diseases
ASK YOUR DOCTOR
If you've had inconclusive genetic testing for your rare disease, ask your genetic counselor or doctor whether long-read sequencing is available or appropriate for your case.