Article
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Human genetics - 1 Aug 2024
Padigepati Samskruthi Reddy, Stafford David A, Tan Christopher A, Silvis Melanie R, Jamieson Kirsty, Keyser Andrew, Nunez Paola Alejandra Correa, Nicoludis John M, Manders Toby, Fresard Laure, Kobayashi Yuya, Araya Carlos L, Aradhya Swaroop, Johnson Britt, Nykamp Keith, Reuter Jason A
Abstract excerpt
As the adoption and scope of genetic testing continue to expand, interpreting the clinical significance of DNA sequence variants at scale remains a formidable challenge, with a high proportion classified as variants of uncertain significance (VUSs). Genetic testing laboratories have historically relied, in part, on functional data from academic literature to support variant classification. High-throughput...
Topics
- Humans
- Genetic Variation
- Genetic Testing
- High-Throughput Screening Assays
- High-Throughput Nucleotide Sequencing