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