ResearchBIORXIVApr 4
Preprint: Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicing
Researchers developed a new test called targeted long-read sequencing that can better identify which genetic changes affect how genes are read and used in cells. This test is more accurate than older methods at finding these changes in patients with neurological disorders, and it's faster and cheaper than previous approaches.
WHY IT MATTERSIf you have a neurological disorder where genetic testing hasn't found a clear diagnosis, this method could help doctors identify the actual genetic cause by better detecting splicing variants that standard tests miss.
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