pgen.1009774.s006.tif (1 MB)
Comparison of PTEN variant function in adult wings with ΔVAC14 and fly developmental delay scores.
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posted on 2021-09-07, 17:45 authored by Payel Ganguly, Landiso Madonsela, Jesse T. Chao, Christopher J. R. Loewen, Timothy P. O’Connor, Esther M. Verheyen, Douglas W. AllanPairwise correlation scatter plots between the wing size assay and the yeast sentinel interaction mapping of PTEN variants using the ΔVAC14 sentinel [50] (A), or the Drosophila developmental delay assay (time to eclosion) (B) [50]. Each datum point indicates an individual normalized variant (where attP2 = 0 and PTEN-WT = 1) with clusters coloured according to clusters identified in Fig 6A.
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recent published datagenetic interaction approachdiv >< passessing defined genegene variant discoverypredicted functional categoriesbecoming common placehuman cell lineassay correctly assignedclinical interpretation alignedworking group guidelinesoffers great potentialdrosophila melanogaster clinical variant interpretationestablished assays ’.human variants adherentpowerful assay platformbenign pten variantsclinical interpretationdrosophila established assayspten benign variantspten variantsinterpretation gapfunctional consequencebecoming routinevariant functionexperimental assaysassays reproducibleassay platformvariants correlatedusefully interpretremains difficultremains challengingincrease confidencehigh numbersdisease relevancedisease mechanismcellular growthakt signalingaccurate assessment
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