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Biorxiv : the Preprint Server for Biology|July 9, 2025
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effectsSriram Pendyala, Katie Partington, Nicholas Bradley, et al.Genetics|September 25, 2024
Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoffGabriel E Boyle, Katherine A Sitko, Jared G Galloway, et al.Genome Biology|June 25, 2025
Mapping MAVE data for use in human genomics applicationsJeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.Journal of Digital Imaging|July 10, 2014
Consistency and standardization of color in medical imaging: a consensus reportAldo Badano, Craig Revie, Andrew Casertano, et al.Cell|May 13, 2026
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effectsSriram Pendyala, Katie Partington, Nicholas Bradley, et al.Cell Genomics|April 9, 2026
ClinGen API platform for classification of human genetic variantsNeethu Shah, Tierra Farris, Arturo Alejandro Zuniga, et al.Nature Communications|July 9, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significanceCarina G Biar, Ziyu R Wang, Nathan D Camp, et al.Nature|September 15, 2015
BET inhibitor resistance emerges from leukaemia stem cellsChun Yew Fong, Omer Gilan, Enid Y N Lam, et al.Genome Biology|January 22, 2025
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assaysAlan F Rubin, Jeremy Stone, Aisha Haley Bianchi, et al.Biorxiv : the Preprint Server for Biology|February 23, 2026
A scalable approach to resolving variants of uncertain significanceMalvika Tejura, Yile Chen, Abbye E McEwen, et al.Pageof 9