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High-Throughput Functional Assays in Genetics by Haseena Sait is a document available to read on EtoBox.
What is High-Throughput Functional Assays in Genetics about?
The document discusses advancements in high-throughput sequencing technologies and their application in identifying genomic variants, particularly Variants of Unknown Significance (VUS). It highlights various studies utilizing multiplexed assays to evaluate the functional relevance of these variants in conditions such as Autism Spectrum Disorder and Limb-Girdle Muscular Dystrophy. The findings emphasize the importance of functional assays in reclassifying variants and improving precision medicine approaches
- Author
- Haseena Sait
- Language
- EN