Whole Genome Sequencing Analysis:
Comprehensive Capture of Genetic Variants

The Program in Quantitative Genomics will host its 10th annual conference, “Whole Genome Sequencing Analysis: Comprehensive Capture of Genetic Variants” on November 3-4, 2016 at the Joseph B. Martin Conference Center at Harvard Medical School in Boston, MA.

The conference will be centered on the following three topics:


SESSION I: Path to Genomics
SESSION II: Scaling up Phenotypes
SESSION III: New Horizons in Population Genetics


The theme of this year’s conference is extremely timely given the large number of Whole Genome Sequencing (WGS) samples that are being generated by the community through the NHGRI Genome Sequencing Program, the NHLBI TopMed Program, and other initiatives.

The Cancer Moonshot program will enroll about 20,000 cancer patients across 20 different tumor types in clinical trials for immunotherapy combinations by 2020. All patients would be screened using next-generation sequencing. The NHGRI GSP and the NHLBI TOPMed Program will generate WGS data for 200,000 individuals and 75,000 individuals respectively. Such massive WGS data presents an unprecedented opportunity for genetic discovery in human diseases with the most comprehensive capture of coding and non-coding variation. Analysis of this data holds tremendous promise for genetic discovery of rare variants, continuing the success achieved in Genome-Wide Association Studies (GWAS) for common variants. As the majority of WGS consists of non-coding regions, which lack such clear annotation, there is a great need to develop analog strategies for WGS data.

Analysis of WGS data faces several major challenges including the massive number of rare variants across the genome and poor power for testing individual rare variants.  An additional challenge is how to best group and test rare variations in non-coding regions by incorporating rich functional annotation information from such projects as the Encyclopedia of DNA Elements (ENCODE) and Roadmap Epigenomics Consortium.  Lastly, we must determine how to take advantage of rich phenotypes, such as molecular phenotypes and Electronic Medical Records.

To meet these challenges, we have assembled an interdisciplinary team of distinguished speakers experienced in sequencing studies, statistical genetics, functional analysis and computational biology, clinical genomics, and Electronic Medical Records.  We will seek to discuss statistical and computational methods for rare variant analysis by incorporating functional and regulatory information, multiple phenotypes to boost the power for association, how different phenotypes relate genetically and reveal causal pathways, finding new opportunities of population genetics, and the using this knowledge to better understand human disease biology and etiology.

The conference schedule includes time for scientific presentations and a poster session and reception for submitted abstracts.

Three abstracts will be selected for Stellar Abstract Awards and to be presented as 10-minute platform talks. Each of these speakers will receive an award of up to $500 for travel assistance or other conference expenses.