Researchers at Radboud University Medical Center have demonstrated that long-read DNA sequencing is significantly more effective than traditional short-read sequencing in identifying the genetic causes of rare diseases. This advancement could lead to faster, more accurate diagnoses and improved patient care.
Radboud University Medical Center researchers have made a groundbreaking discovery in the field of rare disease diagnosis. They found that a new sequencing technique using long reads is significantly more effective at detecting complex genetic causes compared to traditional short read sequencing. This advancement could revolutionize the way rare diseases are diagnosed, leading to faster and more accurate results for patients.
Traditionally, genome sequencing involves breaking down an individual's DNA into small pieces known as short reads. These pieces are then read and reassembled to map the complete genome. While this method has been successful in identifying the genetic causes of many rare diseases, it has limitations. Very long repetitive sections of DNA (repeats) and pieces that have been deleted, inserted, or rearranged (translocations) can be difficult to reassemble accurately using short reads.To address these challenges, Christian Gilissen, Lisenka Vissers, and their colleagues investigated the use of long reads, a new sequencing technique that can read genetic segments of up to 20,000 letters. This technology has become more reliable and affordable in recent years. In their study, they analyzed 100 samples where the genetic causes of rare diseases had been previously difficult to identify using short reads and supplementary tests. Remarkably, long reads identified 83 percent of the causes immediately, with an additional 10 percent detected upon further examination. This resulted in a detection rate of 93 percent for these challenging cases.Moreover, long reads offer the advantage of directly mapping methylation, a process that controls gene activation and deactivation. This eliminates the need for additional tests, as short reads cannot directly map methylation. The researchers demonstrated this by identifying a rare case where the patient lacked a functional gene from their father, and both of their mother's genes were inactive. This complex genetic scenario was readily identified using long reads.With its superior accuracy, ease of use, and cost-effectiveness, long reads hold immense promise for becoming the preferred method for diagnosing rare disorders in the future. As the technology continues to improve and prices decrease, it is expected to significantly impact patient care and accelerate the identification of genetic causes for rare diseases
Rare Diseases Genome Sequencing Long Reads Short Reads Diagnosis Genetic Mutations Methylation
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