Hot Topics Our Genomic Future: Tim hubbard

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Saúde e medicina Tecnologia

Bioinformatics:
Challenges and Opportunities

Whole Genome Sequencing, Analysis
and Interpretation
Clinical
Interpretation
Variants
(VCF)
Candidate
Variants
Sequence
(BAM)
Clinical
Action
Sample
DNA

Research
Analysis
Genome Sequence Database
Whole Genome Sequencing, Analysis
and Interpretation
Clinical
Interpretation
Variants
(VCF)
Candidate
Variants
Sequence
(BAM)
Clinical
Action
Sample
DNA
DB of Known
Pathogenic
Variants

Genome Sequence Database
Clinical
Action
Clinical
Apps
Decision
Support
Whole Genome Sequencing, Analysis
and Interpretation
NHS Electronic Health Record
Clinical
Interpretation
Variants
(VCF)
Candidate
Variants
Sequence
(BAM)
Clinical
Action
Sample
DNA

Summary
• Bioinformatics of Whole Genome Analysis is challenging
• Once infrastructure to handle genomic data is built, huge
potential to carry out eDiagnostics against an individuals
genome to improve treatment

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Hot Topics Our Genomic Future: Tim hubbard

1. Our Genomic Future Nesta, 2 July 2014 Tim Hubbard King’s College London Genomics England, Sanger Institute

2. Bioinformatics: Challenges and Opportunities

3. Whole Genome Sequencing, Analysis and Interpretation Clinical Interpretation Variants (VCF) Candidate Variants Sequence (BAM) Clinical Action Sample DNA

4. Whole Genome Sequencing, Analysis and Interpretation Clinical Interpretation Variants (VCF) Candidate Variants Sequence (BAM) Clinical Action Sample DNA Variants (VCF) Sequence (BAM) Sample DNA Variants (VCF) Sequence (BAM) Sample DNA Parents Rare Disease Diagnosis Comparison DB of Known Pathogenic Variants

5. Whole Genome Sequencing, Analysis and Interpretation Clinical Interpretation Variants (VCF) Candidate Variants Sequence (BAM) Clinical Action Sample DNA Variants (VCF) Sequence (BAM) Sample DNA Germ Line Cancer Diagnosis Comparison DB of Known Pathogenic Variants

6. Research Analysis Genome Sequence Database Whole Genome Sequencing, Analysis and Interpretation Clinical Interpretation Variants (VCF) Candidate Variants Sequence (BAM) Clinical Action Sample DNA DB of Known Pathogenic Variants

7. Genome Sequence Database Clinical Action Clinical Apps Decision Support Whole Genome Sequencing, Analysis and Interpretation NHS Electronic Health Record Clinical Interpretation Variants (VCF) Candidate Variants Sequence (BAM) Clinical Action Sample DNA

8. Summary • Bioinformatics of Whole Genome Analysis is challenging • Once infrastructure to handle genomic data is built, huge potential to carry out eDiagnostics against an individuals genome to improve treatment

Hot Topics Our Genomic Future: Tim hubbard

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Hot Topics Our Genomic Future: Tim hubbard