Costs of next generation sequencing (NGS) have plummeted, enhancing the scale and scope of genomic research. However, it has become clear that the NGS workhorse requires novel and creative analytic tools, integration of multi-omic data sets, and functional characterization of putative causal variants to better understand human disease and its optimal prevention and management. This session will feature presentations from investigators who have made major contributions to the functional genomics of acquired and inherited hematologic disease.
Dr. Jinghui Zhang will discuss analytical approaches for distinguishing a driver variant from a passenger using cancer genomic and transcriptomic sequencing data. Somatic variants that drive tumorigenesis are important biomarkers for precision oncology. Dr. Zhang will describe statistical approaches for assessing mutation enrichment. She will highlight the value of whole genome sequencing and integrative analysis of genetic variations and the transcriptome for discovery of non-coding driver mutations, as well as characterization of variant pathogenicity by data mining. Dr. Zhang will provide examples to demonstrate the power of these approaches for research discovery and real-time clinical application.
Dr. Ernest Turro will discuss statistical and genomic approaches in rare disease research. He will describe recently developed methods that address statistical challenges of identifying causative associations in rare diseases, including power issues, phenotypic heterogeneity, and unknown modes of inheritance. Dr. Turro will describe how cell-specific genomic assays of patient and control samples allow researchers to constrain the large hypothesis space explored by unbiased genome-wide analyses and permit construction of a focused map of the most functionally important coding and regulatory loci, enabling an efficient identification of pathogenic variants. He will demonstrate the value of integrating transcriptomic (RNA-seq) and epigenomic (ChIP-seq) profiling of cell types pertinent to hereditary bleeding and platelet disorders.