Rob Currie rcurrie@ucsc.edu Genetic Data: 1 in 25 Americans BRCA 1 - - PowerPoint PPT Presentation

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Oct 08, 2022 203 likes •401 views

Rob Currie rcurrie@ucsc.edu Genetic Data: 1 in 25 Americans BRCA 1 & 2 Familial Breast Cancer No Familial Breast Cancer General Population ATM BARD1 From 2 to All Genes BRIP1 CDH1 CHEK2 MLH1 MSH2 MSH6 BRCA1 PMS2 BRCA2

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Rob Currie rcurrie@ucsc.edu

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Genetic Data: 1 in 25 Americans

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BRCA 1 & 2

Familial Breast Cancer No Familial Breast Cancer General Population

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BRCA1 ATM BARD1 BRIP1 CDH1 CHEK2 MLH1 MSH2 MSH6 PMS2 EPCAM NBN NF1 PALB2 PTEN RAD51C RAD51D STK11 TP53 BRCA2

5% VUS 50%+ VUS

From 2 to All Genes

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Most Biomedical Data Held in Silos

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GATTTATCTGCTCTCGTTG GAAGTACAAAATTCATTAAT GCTATGCACAAAATCTGTAG TAGTGTCCCATCTATTT C

We need a network for sharing

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Private Data Patient Participants Public Data Steward UCSF Private Data Patient Participants Public Data Steward BRCA Private Data Patient Participants Public Data Steward Lab

Cancer Gene Trust

Users Researchers, Clinicians, Pharma, Data Analysts, Citizen Scientists

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Steward Steward Encrypted Results Container Hash Private Data CGT Private Data

Moving Compute to the Data

Containers $$$

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Docker Containers Somatic Genomic Data

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0100101001 1011001100 1001001001 0100110011

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