Journal: bioRxiv
Article Title: ButterflyVI: enabling high-throughput variant interpretation and biomarker discovery with functional genomics
doi: 10.64898/2026.01.20.700339
Figure Lengend Snippet: A , Summary plot of ElasticNet biomarkers of druggable genes. Each point shows a biomarker shared between CRISPR and RNAi datasets that was selected at least 5 times out of 10 ElasticNet runs, had a mean coefficient greater in absolute value than .05 and exhibit the same effect direction in both datasets. A negative weighted mean ElasticNet score indicates sensitivity, whereas a positive score indicates resistance. B–D. MDM2 ( B ) and MDM4 ( C ) dependency scores, and MDM2 mRNA expression ( D ) in cell lines classified by RPL5 status: wild type (or carrying a neutral mutation) versus carrying a functional mutation (as defined by OncoKB or ButterflyVI). E , Relative expression of RPL5 in cells transfected with control siRNA (siCtrl), GAPDH siRNA (siGAPDH), or RPL5 siRNA (siRPL5). Data are presented as the mean ± standard error of the mean (SEM). Differences between groups were evaluated using an unpaired Student’s t-test. The level of statistical significance is indicated by asterisks: ns, not significant (P > 0.05); ** P ≤ 0.01; * P ≤ 0.05. F , Cellular viability in response to DMSO (control) or Nutlin-3a treatment at varying doses in RT-4 (left) and KU-19-19 (right) models. Cellular viability is expressed as a percentage. Each point represents a single experimental data point (replicate). The colored lines indicate the mean viability for each knockdown condition (siCtrl, siGAPDH, siRPL5). The shaded bands represent the standard error of the mean (SEM).
Article Snippet: The human bladder cancer cell lines KU-19-19 and RT-4 (ACC 395 and ACC 412; DSMZ) were cultured in RPMI 1640, GlutaMAX (Gibco, 61870010) supplemented with 10% FBS (Thermo Fisher Scientific, A5256701) and 1% Penicillin-Streptomycin (Thermo Fisher Scientific, 15070063) at 37 °C in a humidified atmosphere with 5% CO2.
Techniques: Biomarker Discovery, CRISPR, Expressing, Mutagenesis, Functional Assay, Transfection, Control, Knockdown