high resolution clinical phenotype: demographics socio-economic status birth history social history...
TRANSCRIPT
High resolution clinical phenotype:
• 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)
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4-6 monthly visits,473 parameters captured in 1053 data fields
NEPTUNE Virtual Microscopy Archive of Nephrotic Syndrome
Glass slides are scanned usingAperio ScanScope OS
Data analysis
Kidney bx slide
Scoring process on annotated images
Annotator
Scoring process on annotated images
Reader #1 Reader #2
L. Barisoni, S.Hewitt, J. Kopp
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
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