Modeling Cellular Evidence: Scalable Approaches for Generating, Validating and Incorporating Data from High-Throughput Functional Assays to Improve Clinical Variant Interpretation
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Presenting Author - Jason Reuter, PhD; Co-Author - Yuya Kobayashi, PhD; Co-Author - Flavia M. Facio, MS, CGC; Co-Author - Swaroop Aradhya; Co-Author - Britt A. Johnson, PhD, FACMG; Co-Author - Alex Colavin, PhD; Co-Author - Keith Nykamp, PhD;
Meta Tag
Bioinformatics
Genetic Testing
Genomic Methodologies
NextGen Sequencing
Co-Author Yuya Kobayashi, PhD
Co-Author Flavia M. Facio, MS, CGC
Co-Author Swaroop Aradhya
Co-Author Britt A. Johnson, PhD, FACMG
Co-Author Alex Colavin, PhD
Co-Author Keith Nykamp, PhD
Presenting Author Jason Reuter, PhD
Keywords
variants of uncertain significance
genetic testing
high-throughput functional assays
interpretation
commercial labs
single-cell RNA sequencing
scRNA-seq
cellular evidence modeling
reclassification rates
clinical variant interpretation

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