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Researchers at the Karolinska Institutet in Sweden have shown in a new study that genome sequencing can be used as a sensitive first-line test to diagnose patients with
About 1% of the world's people have an intellectual disability (ID
Currently, there are several different methods used in clinical genetic diagnosis to detect
The results of the analysis showed that genome sequencing had a diagnostic rate of 35% as a first-line test, 26% as a second-line test, and 11%
Genome sequencing as a first-line test reduces the cost of diagnosis per individual by 36%
The researchers believe that genome sequencing is feasible and effective as a first-line genetic analysis, providing molecular diagnosis
Professor Anna Lindstrand of Karolinska Institutet said: "Our findings strongly suggest that genomic analysis is superior to other detection strategies and should replace traditional CMA and FMR1 analysis as a first-line genetic test
The study was supported
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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
