high resolution clinical phenotype: demographics socio-economic status birth history social history...

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High resolution clinical phenotype: • Demographics • Socio-Economic status Birth History Social History Family History • Pre-kidney disease H. Kidney disease H. • Clinical Symptoms Physical Exam Quality of Live Patient recorded outcomes (PROMIS) Adverse Events • Histopathology (local and 1 6 monthly visits, 3 parameters captured in 1053 data fields

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Page 1: High resolution clinical phenotype: Demographics Socio-Economic status Birth History Social History Family History Pre-kidney disease H. Kidney disease

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

Page 2: High resolution clinical phenotype: Demographics Socio-Economic status Birth History Social History Family History Pre-kidney disease H. Kidney disease

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

Page 3: High resolution clinical phenotype: Demographics Socio-Economic status Birth History Social History Family History Pre-kidney disease H. Kidney disease

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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