Long reads can revolutionize genetic diagnosis of rare diseases
DNA
Radboud University Medical Center Jan 13 2025 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, Lisenka Vissers, and colleagues found that a new technique using long reads is even more effective at detecting complex causes. They report that eighty to ninety percent of cases were detectable, as stated in the American Journal of Human Genetics.
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