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Thursday 27 September 2012
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11:00 – 13:30
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Registration and poster hanging
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13:40 – 13:45
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Introduction
Rebecca Furlong, Genome Medicine, UK
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Informatics Workshop. Chair: David Dooling
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13:45 - 14:15 |
New algorithms and infrastructure for variant detection at population scale
Gabor Marth, Boston College, USA
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14:15 - 14:45 |
Network and Pathway Analysis of Somatic Mutations in Cancer
Ben Raphael, Brown University, USA
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14:45 - 15:15 |
Pathway-based analysis of mutation impact
Josh Stuart, University of California Santa Cruz, USA
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15:15 - 15:30 |
Sponsored technical presentation - Strand
Aishwarya Narayanan, Application Scientist, Strand
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15:15 – 16:00
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Coffee break
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16:00 - 16:30 |
Illuminating the genetics of complex human diseases
Mike Schatz, Cold Spring Harbor Laboratories, USA
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|
16:30 - 17:00 |
Accessible, transparent, reproducible analysis with Galaxy
James Taylor, Emory University, USA
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17:00 - 18:00 |
Informatics challenge
David Dooling, Michael Schatz, James Taylor
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18:00 - 18:15 |
Sponsored technical presentation - DNAnexus
Andreas Sundquist, CEO and Co-founder of DNAnexus
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18:00 – 19:30
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Poster session 1 and welcome reception (odd-numbered posters to be presented)
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Friday 28 September 2012
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08:00 – 08:55
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Breakfast
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Session one. Inherited disease: beyond the candidate gene approach. Chair: James Lupski
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09:00 - 09:30 |
Hypothesis-generating clinical genomics research and predictive medicine
Leslie Biesecker, National Human Genome Research Institute, USA
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09:30 - 10:00 |
Whole-genome sequencing and disease-gene detection
Lynn Jorde, University of Utah, USA
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|
10:00 - 10:30 |
Sifting disease-causing signal from genomic noise
Daniel MacArthur, Massachusetts General Hospital, Boston, USA
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10:30 – 11:00
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Coffee break
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11:00 - 11:30 |
De novo diagnostics of patients with intellectual disability
Joris Veltman, Radboud University Nijmegen Medical Centre, Netherlands
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|
11:30 - 12:00 |
First year experience with the introduction of clinical whole exome sequencing
Sharon Plon, Baylor College of Medicine, USA
|
12:00 - 12:15
Selected talk |
Clinical diagnostic whole genome sequencing in a paediatric population; experience from our WGS genetics clinic.
Elizabeth Worthey, The Medical College of Wisconsin, USA
|
12:15 - 12:30
Selected talk |
Characterizing epistatic hotspots of human disease
Tallulah Andrews, MRC Functional Genomics Unit, University of Oxford, UK
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12:30 - 12:45 |
Sponsored technical presentation - BIOBASE
Jennifer Hogan, VP of Product Management, BIOBASE |
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12:30 – 13:45
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Lunch
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Session two. Ethical issues relating to genomic data. Chair: Sharon Plon
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13:45 - 14:15 |
How to Avoid One Thousand Opportunities to Do Harm In Genomic Medicine
Isaac Kohane, Harvard Medical School and Children's Hospital Boston, USA
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14:15 - 14:45 |
Analyzing Genomes: is there a duty to disclose?
Amy McGuire, Baylor College of Medicine, USA
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Session three. Cancer: from discovery sequencing to targeted therapy
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14:45 - 15:15 |
Interrogating of cancer genomes: towards more profile-based therapeutics
John Carpten, TGen, USA
|
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15:15 - 15:45 |
The implications of clonal genome evolution for cancer medicine
Samuel Aparicio, BC Cancer Research Centre, Canada
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15:45 – 16:15
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Coffee break
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16:15 – 16:30
Selected talk
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Surname leakage from personal genomes
Yaniv Erlich, Whitehead Institute for Biomedical Research, USA
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16:30 - 16:45
Selected talk |
Multi-level genomic profi ling of prostate cancers reveals a landscape spanning ageing
and cancer
Johan Lindberg, Karolinska Institutet, Stockholm, Sweden
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16:45 – 17:30
Keynote
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Genomics – Catching up to Human Genetics
Richard Gibbs, Baylor College of Medicine, USA
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17:30 – 19:00
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Poster session 2 with pre-dinner drinks (even-numbered posters to be presented)
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19:30 – 22:30
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Conference dinner
MIT Museum
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Saturday 29 September 2012
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07:45 – 08:55
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Breakfast
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Session three continued. Cancer: from discovery sequencing to targeted therapy
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09:00 - 09:30 |
Translating cancer genomes
Lynda Chin, MD Anderson Cancer Center, USA
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09:30 - 10:00
|
Genome evolution during progression to breast cancer
Arend Sidow, Stanford, USA
|
10:00 - 10:15
Selected talk |
MutaScope: a high sensitivity variant caller dedicated to high-throughput PCR amplicons sequencing
Shawn Yost, University of California San Diego, USA
|
10:15 - 10:30
Selected talk |
Analysis of somatic retrotransposition in human cancers
Peter Park, Harvard Medical School, USA
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10:30 – 11:00
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Coffee break
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Session four. Epigenomics technologies and applications
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11:00 - 11:30 |
Exploring the Cancer Methylome
Peter Laird, University of Southern California, USA
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11:30 - 12:00 |
The hunt for mammalian epialleles
Vardhman Rakyan, Barts and The London School of Medicine and Dentistry, UK
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12:00 - 12:30 |
Folding principles of genomes
Job Dekker, University of Massachusetts Medical School, USA
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12:30 – 13:45
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Lunch
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13:45 - 14:15 |
Ultra-high resolution mapping of protein-genome interactions using ChIP-exo
Frank Pugh, Penn State University, USA
|
|
14:15 – 14:15
Selected talk
|
Epigenetic reprogramming in the epithelial-to-mesenchymal transition
Stephen Hoang, University of Virginia School of Medicine, USA
|
14:15 - 14:30
Selected talk |
Development of a computational strategy to compare repetitive element enrichment between
experimental conditions from high throughput sequencing datasets
Steven Criscione, Molecular Biology, Cell Biology, and Biochemistry, Brown University, USA
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|
14:45 – 15:30
Keynote
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Towards a patient-based drug discovery
Stuart Schreiber, Broad Institute of Harvard and MIT, USA
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15:30
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Closing remarks
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*Please note this program is subject to change
|
-
Day One
|
11:00 – 13:30
|
Registration and poster hanging
|
|
13:40 – 13:45
|
Introduction
Rebecca Furlong, Genome Medicine, UK
|
|
|
Informatics Workshop. Chair: David Dooling
|
|
13:45 - 14:15 |
New algorithms and infrastructure for variant detection at population scale
Gabor Marth, Boston College, USA
|
|
14:15 - 14:45 |
Network and Pathway Analysis of Somatic Mutations in Cancer
Ben Raphael, Brown University, USA
|
|
14:45 - 15:15 |
Pathway-based analysis of mutation impact
Josh Stuart, University of California Santa Cruz, USA
|
|
15:15 - 15:30 |
Sponsored technical presentation - Strand
Aishwarya Narayanan, Application Scientist, Strand
|
|
15:15 – 16:00
|
Coffee break
|
|
16:00 - 16:30 |
Illuminating the genetics of complex human diseases
Mike Schatz, Cold Spring Harbor Laboratories, USA
|
|
16:30 - 17:00 |
Accessible, transparent, reproducible analysis with Galaxy
James Taylor, Emory University, USA
|
|
17:00 - 18:00 |
Informatics challenge
David Dooling, Michael Schatz, James Taylor
|
|
18:00 - 18:15 |
Sponsored technical presentation - DNAnexus
Andreas Sundquist, CEO and Co-founder of DNAnexus
|
|
18:00 – 19:30
|
Poster session 1 and welcome reception (odd-numbered posters to be presented)
|
-
Day Two
|
08:00 – 08:55
|
Breakfast
|
|
|
Session one. Inherited disease: beyond the candidate gene approach. Chair: James Lupski
|
|
09:00 - 09:30 |
Hypothesis-generating clinical genomics research and predictive medicine
Leslie Biesecker, National Human Genome Research Institute, USA
|
|
09:30 - 10:00 |
Whole-genome sequencing and disease-gene detection
Lynn Jorde, University of Utah, USA
|
|
10:00 - 10:30 |
Sifting disease-causing signal from genomic noise
Daniel MacArthur, Massachusetts General Hospital, Boston, USA
|
|
10:30 – 11:00
|
Coffee break
|
|
11:00 - 11:30 |
De novo diagnostics of patients with intellectual disability
Joris Veltman, Radboud University Nijmegen Medical Centre, Netherlands
|
|
11:30 - 12:00 |
First year experience with the introduction of clinical whole exome sequencing
Sharon Plon, Baylor College of Medicine, USA
|
12:00 - 12:15
Selected talk |
Clinical diagnostic whole genome sequencing in a paediatric population; experience from our WGS genetics clinic.
Elizabeth Worthey, The Medical College of Wisconsin, USA
|
12:15 - 12:30
Selected talk |
Characterizing epistatic hotspots of human disease
Tallulah Andrews, MRC Functional Genomics Unit, University of Oxford, UK
|
|
12:30 - 12:45 |
Sponsored technical presentation - BIOBASE
Jennifer Hogan, VP of Product Management, BIOBASE |
|
12:30 – 13:45
|
Lunch
|
|
|
Session two. Ethical issues relating to genomic data. Chair: Sharon Plon
|
|
13:45 - 14:15 |
How to Avoid One Thousand Opportunities to Do Harm In Genomic Medicine
Isaac Kohane, Harvard Medical School and Children's Hospital Boston, USA
|
|
14:15 - 14:45 |
Analyzing Genomes: is there a duty to disclose?
Amy McGuire, Baylor College of Medicine, USA
|
|
|
Session three. Cancer: from discovery sequencing to targeted therapy
|
|
14:45 - 15:15 |
Interrogating of cancer genomes: towards more profile-based therapeutics
John Carpten, TGen, USA
|
|
15:15 - 15:45 |
The implications of clonal genome evolution for cancer medicine
Samuel Aparicio, BC Cancer Research Centre, Canada
|
|
15:45 – 16:15
|
Coffee break
|
|
16:15 – 16:30
Selected talk
|
Surname leakage from personal genomes
Yaniv Erlich, Whitehead Institute for Biomedical Research, USA
|
16:30 - 16:45
Selected talk |
Multi-level genomic profi ling of prostate cancers reveals a landscape spanning ageing
and cancer
Johan Lindberg, Karolinska Institutet, Stockholm, Sweden
|
|
16:45 – 17:30
Keynote
|
Genomics – Catching up to Human Genetics
Richard Gibbs, Baylor College of Medicine, USA
|
|
17:30 – 19:00
|
Poster session 2 with pre-dinner drinks (even-numbered posters to be presented)
|
|
19:30 – 22:30
|
Conference dinner
MIT Museum
|
-
Day Three
|
07:45 – 08:55
|
Breakfast
|
|
|
Session three continued. Cancer: from discovery sequencing to targeted therapy
|
|
09:00 - 09:30 |
Translating cancer genomes
Lynda Chin, MD Anderson Cancer Center, USA
|
|
09:30 - 10:00
|
Genome evolution during progression to breast cancer
Arend Sidow, Stanford, USA
|
10:00 - 10:15
Selected talk |
MutaScope: a high sensitivity variant caller dedicated to high-throughput PCR amplicons sequencing
Shawn Yost, University of California San Diego, USA
|
10:15 - 10:30
Selected talk |
Analysis of somatic retrotransposition in human cancers
Peter Park, Harvard Medical School, USA
|
|
10:30 – 11:00
|
Coffee break
|
|
|
Session four. Epigenomics technologies and applications
|
|
11:00 - 11:30 |
Exploring the Cancer Methylome
Peter Laird, University of Southern California, USA
|
|
11:30 - 12:00 |
The hunt for mammalian epialleles
Vardhman Rakyan, Barts and The London School of Medicine and Dentistry, UK
|
|
12:00 - 12:30 |
Folding principles of genomes
Job Dekker, University of Massachusetts Medical School, USA
|
|
12:30 – 13:45
|
Lunch
|
|
13:45 - 14:15 |
Ultra-high resolution mapping of protein-genome interactions using ChIP-exo
Frank Pugh, Penn State University, USA
|
|
14:15 – 14:15
Selected talk
|
Epigenetic reprogramming in the epithelial-to-mesenchymal transition
Stephen Hoang, University of Virginia School of Medicine, USA
|
14:15 - 14:30
Selected talk |
Development of a computational strategy to compare repetitive element enrichment between
experimental conditions from high throughput sequencing datasets
Steven Criscione, Molecular Biology, Cell Biology, and Biochemistry, Brown University, USA
|
|
14:45 – 15:30
Keynote
|
Towards a patient-based drug discovery
Stuart Schreiber, Broad Institute of Harvard and MIT, USA
|
|
15:30
|
Closing remarks
|
|
|
|
|
|
*Please note this program is subject to change
|
-
-
|
-
-
-
-
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Samuel Aparicio, BC Cancer Research Centre, Canada
|
|

|
Leslie Biesecker, National Human Genome Research Institute, USA
|
|

|
John Carpten, TGen, USA
|
|

|
Lynda Chin, MD Anderson Cancer Center, USA
|
|

|
Job Dekker, University of Massachusetts Medical School, USA
|
|

|
David Dooling, Washington University School of Medicine, St Louis, USA |
|

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Richard Gibbs, Baylor College of Medicine, USA
|
|

|
Lynn Jorde, University of Utah, USA
|
|

|
Isaac Kohane, Harvard Medical School and Children's Hospital Boston, USA
|
|

|
Peter Laird, University of Southern California, USA
|
|

|
Gabor Marth, Boston College, USA
|
|

|
Daniel MacArthur, Massachusetts General Hospital, Boston, USA
|
|

|
Amy McGuire, Baylor College of Medicine, USA
|
|

|
Sharon Plon, Baylor College of Medicine, USA |
|

|
Frank Pugh, Penn State University, USA |
|

|
Vardhman Rakyan, Barts and The London School of Medicine and Dentistry, UK
|
|

|
Ben Raphael, Brown University, USA
|
|

|
Mike Schatz, Cold Spring Harbor Laboratories, USA
|
|

|
Stuart Schreiber, Broad Institute of Harvard and MIT, USA
|
|

|
Arend Sidow, Stanford, USA
|
|

|
Josh Stuart, University of California Santa Cruz, USA |
|

|
James Taylor, Emory University, USA
|
|

|
Joris Veltman, Radboud University Nijmegen Medical Centre, Netherlands
|
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