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Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis

Whole genome sequencing (WGS) isn’t always successful in diagnosing rare monogenic diseases, but long-read sequencing could be more effective, according to an article in The American Journal of Human Genetics. Researchers found the method increased the rate of diagnosis, from over half of cases remaining undiagnosed with short-read WGS to only 11 of 42 patients undiagnosed with long-read sequencing. Long-read sequencing produced a more complete data set, took less time and was cheaper.

Source: www.genengnews.com –

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