BioData Americas Day 2



Sekar Kathiresan

Inherited basis for myocardial infarction

  • Reviewing recent developments in our understanding of the inherited basis for myocardial infarction
  • Learning how human genetics can be used to distinguish factors that cause disease from those merely correlated with disease
  • Describing evidence emphasizing the importance of apoB-containing lipoproteins as the causal driver for coronary atherosclerosis
Mathew Pletcher

MSSNG – Changing the face of autism through big data and open science

  • MSSNG is an effort to create an open science database of over 10,000 whole genome sequences from families with autism
  • Goal of the project is to drive the identification of genetically and clinically-defined subtypes of autism
  • Over 5000 whole genomes are currently being shared with over 90 approved investigators across the world through a web-based portal and the Google Genomics workbench
Jennifer Hall

The Next Frontier: Solutions for Cardiovascular and Brain Health through Knowledge Integration

  • Global advocacy of the American Heart Association
  • Global Goals for Sustainable Development?
  • How is knowledge integration solving the global goals for sustainable development?
  • A global goal for sustainable development is good health.
  • Knowledge integration solutions to promote cardiovascular and Brain health
Philip Bourne

Highlights from the NIH Big Data to Knowledge (BD2K) program

  • Predictive phenotyping
  • Mobility data changing behaviors
  • Environmental influences and healthcare

Morning coffee

Professor Jong Bhak

Genome Korea in Ulsan: Sequencing 10,000 genomes in South Korea

•PGP-Korea: Personal Genome Project of Korea
•Severe stress and genotype study using Multi-Omics.
•KOREF: The ethnicity-relevant Korean Reference genome
Ms Juliet Williams

Predicting human clinical trials in mice: Modeling inter-patient response heterogeneity in PDXs

  • Extensive collection of PDX models faithfully represents the broad genetic landscape of human cancer
  • Large scale screen approach accurately predicts the response of both chemotherapeutics and targeted therapies
  • PDX models used in mouse clinical trial approach may better model human cancer than traditional cell based systems
Professor Paul Glimcher

The Kavli HUMAN Project: Disrupting Longitudinal Research with Big BioData

  • Today, the biggest societal problems, such as Alzheimer’s, obesity, or cognitive decline, require interdisciplinary research to solve them. But the overarching problem is that such research is still hampered by a lack of data.
  • There are also societal issues that are not solely health or behavioral issues, but still affect all of us: how well our education system performs, or understanding the financial and psychological toll on a family caring for a sick elderly family member, for example.
  • To tackle so many disparate issues at once, the Kavli HUMAN Project will study 10,000 New York City residents for 10-20 years, collecting highly granular and cross-sectional biological, behavioral, and environmental data, and providing this highly secure discovery science platform to the research community at large. The Kavli HUMAN Project is a new way of studying the entire human condition, and New York City is only the beginning.


Genomics and Health: Patient-Doctor-Bioinformatician

Big Data: Innovation and open source collaboration/Cloud computing

Genomics and Health: Patient-Doctor-Bioinformatician

The clinical adoption of NGS at the Mayo Clinic

  • Different uses of NGS (WGS, WES, small gene panels, RNAseq), their strengths and weaknesses as clinical tools
  • The Mayo Clinic approach to developing tests based upon NGS
  • Coupling NGS and digital droplet PCR to monitor cancer patients.
Big Data: Innovation and open source collaboration

Integrative Genomics for Single Cells, Cities, and Space Stations

  • An update on MetaSUB, which is collecting metagenomics samples from over 50 cities around the world
  • The NASA Twins Study shows the complex interplay of ‘omics data during space travel
  • Single-cell metagenomics methods and profiling methods reveal extraordinary heterogeneity 
Genomics and Health: Patient-Doctor-Bioinformatician

Getting to the Right Patient, with the Right Drug(s) at the Right Time(s)

  • Reviewing the current state of “actionability” of the cancer genome 
  • Distinguishing between actionable genes and actionable mutations
  • Reviewing the importance of decision support for optimizing use of NGS data for therapeutic trajectory
Big Data: Innovation and open source collaboration

Genomics and Precision Medicine in Pediatric Cancer

  • Landscape of pediatric genomic alterations
  • Importance of RNA sequencing in pediatric cancers
  • Precision medicine studies and current clinical use of genomic medicine in pediatric cancer

Afternoon refreshments and exhibition viewing

Big Data: HPC and analysis of genomic data

Genomics and Health: Advances in next generation OMICS

Big Data: HPC and analysis of genomic data

Data, Depth, and Dynamics

  • Intratumoral heterogeneity implies a potential need for ultradeep sequencing of rare subclones.
  • Tumor evolutionary dynamics implies the need for multiple timepoints, even if by liquid biopsy.
  • Few current datasets meet both standards above, implying even greater computational requirements.
Genomics and Health: Advances in next generation OMICS

The evolution of Pharmacogenetics in the genomic era

  • An assessment of the landscape of Pharmacogenetics and the opportunities going forward
Big Data: HPC and analysis of genomic data

Deploying and Managing a High-Performance Computing Cluster and Archive Storage System in an Enterprise Academic Research environment

  • Penn Medicine’s HPC strategy, goals, and objectives
  • Architectural and operational considerations
  • Three-year look-back and lessons learned
Genomics and Health: Advances in next generation OMICS

The Epigenetics and Chromatin Clinic: incorporating epigenetics into clinical care

• The Epigenetic and Chromatin Clinic at the McKusick-Nathans Institute of Genetic Medicine provides care for patients with imprinting disorders and patients with Mendelian disorders of the Epigenetic machinery;
• The Mendelian disorders of the Epigenetic Machinery are genetic disorders with epigenetic consequences and an emerging genetic cause of intellectual disability;
• Here we will discuss our early experiences from the Epigenetics and Chromatin Clinic in incorporating epigenetics into clinical care.
Big Data: HPC and analysis of genomic data

Cloud-based software platforms for the analysis of splicing

  • At least 15% of all disease mutations can cause structural errors in the mRNA through Alternative Splicing (AS).
  • Cloud-based platform for the discovery, analysis and interpretation of AS using RNA-seq data.
  • Assisting the increasing demand of data analysis and innovation for drug and biomarker discovery.
last published: 14/Sep/16 11:05 GMT