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The UCSC Team A professional informatics team of 30 FTEs with expertise in – genomics – work with domain experts worldwide – complex data and applications – large scale systems – 7x24 availability – security and confidentiality
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The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

Dec 27, 2015

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Fay Parrish
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Page 1: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

The UCSC TeamThe UCSC Team

A professional informatics team of30 FTEs with expertise in

– genomics– work with domain experts worldwide – complex data and applications – large scale systems – 7x24 availability– security and confidentiality

A professional informatics team of30 FTEs with expertise in

– genomics– work with domain experts worldwide – complex data and applications – large scale systems – 7x24 availability– security and confidentiality

Page 2: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

• One of the top 3 bioinformatics sites• Over 2.5 millions hits per week • ~1 million lines of code• 2.5 Terabytes/server

– 100 databases, >5,000 tables (human)

• 1.3 Terabyte/week download

• One of the top 3 bioinformatics sites• Over 2.5 millions hits per week • ~1 million lines of code• 2.5 Terabytes/server

– 100 databases, >5,000 tables (human)

• 1.3 Terabyte/week download

UCSC Genome Browser(genome.ucsc.edu)

UCSC Genome Browser(genome.ucsc.edu)

Page 3: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

• Centralized repository of data from 80 organizations and 33 groups– Nature, 6/4/07 – Genome Research, 6/07, 28 papers

• Many different types of data• Successful pilot project expanding

into full genome scale

• Centralized repository of data from 80 organizations and 33 groups– Nature, 6/4/07 – Genome Research, 6/07, 28 papers

• Many different types of data• Successful pilot project expanding

into full genome scale

ENCODE(ENCyclopedia Of DNA Elements)

ENCODE(ENCyclopedia Of DNA Elements)

Page 4: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

• Large scale phase III clinical trail– VaxGen U.S. and Thailand trials data

• 3 user views on– individual subjects– clinical measurements– HIV genomic sequences and annotation

• HTTPS secure website

• Large scale phase III clinical trail– VaxGen U.S. and Thailand trials data

• 3 user views on– individual subjects– clinical measurements– HIV genomic sequences and annotation

• HTTPS secure website

HIV Vaccine Database(Funded by Gates Foundation*)

HIV Vaccine Database(Funded by Gates Foundation*)

* via GSID (Global Solutions of Infectious Diseases)* via GSID (Global Solutions of Infectious Diseases)

Page 5: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

Locus Variants Track (PhenCode*)

Locus Variants Track (PhenCode*)

– 132 external databases from 17 groups– 34,000 variants with 100,000 attribute records – 1,900 phenotypes

Prostatic cancer, blood groups, Cystic fibrosis, Hemoglobinopathies,Immune deficiencies, Muscular dystrophy, Phenylketonuria, breast cancer,Rett Syndrome, Zellweger syndrome, RefSum Disease, Adrenoleukodystrophy,(on genome-test)Familial Hypertrophic Cardiomyopathy, Long QT Syndrome, ….

– 132 external databases from 17 groups– 34,000 variants with 100,000 attribute records – 1,900 phenotypes

Prostatic cancer, blood groups, Cystic fibrosis, Hemoglobinopathies,Immune deficiencies, Muscular dystrophy, Phenylketonuria, breast cancer,Rett Syndrome, Zellweger syndrome, RefSum Disease, Adrenoleukodystrophy,(on genome-test)Familial Hypertrophic Cardiomyopathy, Long QT Syndrome, ….

Connects genotypic and functional data from LSDBs (Locus-Specific Data

Bases)

* Belinda M. Giardine, Penn State University* Belinda M. Giardine, Penn State University

Page 6: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

VisiGeneVisiGene

• Image browser for in-situ and other gene-oriented pictures

• 124,000 images– 18,000 from Paul Allen Brain Atlas – other sources

• Unique presentation technology– enabled by 7 millions of photo

tiles

• Image browser for in-situ and other gene-oriented pictures

• 124,000 images– 18,000 from Paul Allen Brain Atlas – other sources

• Unique presentation technology– enabled by 7 millions of photo

tiles

Page 7: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

VisiGeneVisiGene

Page 8: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

UCSC at Your ServiceUCSC at Your Service

• Understand your work & needs• System solutions

– Design – Development– Maintenance– User education & support– Project management

• Understand your work & needs• System solutions

– Design – Development– Maintenance– User education & support– Project management

Page 9: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.
Page 10: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.
Page 11: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

UCSC Genome BrowserUCSC Genome Browser

Page 12: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

                                                          

                                                                    

Page 13: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

HIV Vaccine Database and Web

Works

HIV Vaccine Database and Web

Works

Page 14: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.
Page 15: The UCSC Team A professional informatics team of 30 FTEs with expertise in –genomics –work with domain experts worldwide –complex data and applications.

Medical Management Systems*

Medical Management Systems*

• Utilization Authorization– Internet based– Driven by clinical guidelines

•Milliman and Robertson•InterQual

• Disease Management

• Utilization Authorization– Internet based– Driven by clinical guidelines

•Milliman and Robertson•InterQual

• Disease Management

* at previous startup companies

* at previous startup companies