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High resolution clinical phenotype:. 4-6 monthly visits, 473 parameters captured in 1053 data fields. Demographics Socio-Economic status Birth History Social History Family History Pre-kidney disease H. Kidney disease H. Medication H. Clinical Symptoms Physical Exam Quality of Live
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High resolution clinical phenotype: 4-6 monthly visits, 473 parameters captured in 1053 data fields • Demographics • Socio-Economic status • Birth History • Social History • Family History • Pre-kidney disease H. • Kidney disease H. • Medication H. • Clinical Symptoms • Physical Exam • Quality of Live • Patient recorded outcomes (PROMIS) • Adverse Events • Histopathology (local and digital repository)
NEPTUNE Virtual Microscopy Archive of Nephrotic Syndrome Glass slides are scanned using Aperio ScanScope OS Kidney bx slide Annotator Reader #2 Reader #1 Scoring process on annotated images Scoring process on annotated images L. Barisoni, S.Hewitt, J. Kopp Data analysis
Comprehensive Sample Procurement • DNA: • blood, kidney, urine • RNA: • Blood, kidney, urine • Serum • Plasma • EDTA, NaHep, NaCitrate • Urine • Spot / 24h • Native, NaAz, Protease In. • Urine sediment Funded: • Targeted Sequencing • GWAS • Nephron-segment specific Transcriptome • Digital Path incl. glomerular Morphometry Options to capture genome wide profiles along genotype – phenotype continuum