1. Big Data in Genomics, Diagnostics, and Precision Medicine
James Han

2. 3 billion bases in Human genome decoded. 1990 to 2001

3. = + Cost of sequencing 1st human genome -> today $2.7B -> $1,500
15 years -> 1 week
International team of scientists from 20+ institutions -> 1 person
Sequencing technologies
Bioinformatics
- New applications
- Fast and memory
efficient algorithms + =

4. The Genome Project and sequencing are driving cancer research
Increasing number of associations between the genome and cancer.
New sequencing technology
Human genome start
Human genome complete

5. Typical sequencing runs from different technologies
Bases of sequence (max)
1800 Gb
16 Gb 1G
Read length (max)
150 bp
400 bp
>20,000 bp
Error rate
0.1%
10%

6. Tissue based sequencing diagnostics
Tumor
Sequence
Therapy
Identify tumor
Tumor tissue
Tumor DNA +
Clinical Trials
Medical literature

7. Personalized medicine in lung cancer
Common EGFR mutations and implications for Erlotinib response
10-35% of non-small cell lung cancer patients have a mutation in EGFR
Erlotinib
Greater resistance to Erlotinib
T790M
Greater sensitivity to Erlotinib
Exon 19 deletion
G719
L858R
T790M mutation infers with proper binding of the Erlotinib

8. Cancer mutations detected from millions of sequencings reads
@SEQ_ID GATTTGGGGTTCAAAGCAGTATCGATCAAATAGTAAATCCATTTGTTCAACTCACAGTTT
Sequence manipulation, signal processing, statistical modeling
Using computationally efficient algorithms
Somatic
SNV
Small
In/Del
Structural
Variation
Normal

9. Tumor-specific aberrations in liquid biopsy

10. Source: nytimes

12. Clinical quality big data technologies Healthcare
@SEQ_ID GATTTGGGGTTCAAAGCAGTATCGATCAAATAGTAAATCCATTTGTTCAACTCACAGTTT
This person has stage 3
Non-small cell lung cancer.
Based on her genomic data,
she should be treated with
Erlotinib. Confidence: 90%

13. Thank You.