• Title

    Thursday 27 September 2012

    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)

     

    Friday 28 September 2012

    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

    Saturday 29 September 2012

    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

  • Thursday 27 September 2012

    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)

  • Friday 28 September 2012

    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

  • Saturday 29 September 2012

    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

  • Conference sponsors

             

     

            

     

     

           
     

         

  • Journals

               

     

  • Sponsored technical presentation


     


     

  • Speakers

     

    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

     

    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

  • Poster prize sponsor

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