Luke Hickey is Senior Director of Human Biomedical Sciences at Pacific Biosciences. He has 16 years of experience in the genome technology industry, holding various R&D, Marketing and Commercial roles at Pacific Biosciences, Affymetrix, Ingenuity Systems, Incyte Genomics and UC San Diego. He currently leads the development of Human Biomedical sequencing markets for PacBio’s single molecule long read sequencing technology. In this role, he has contributed to the development of novel methods and applications of the technology resulting in numerous high impact publications and conference presentations, including; sequencing of the Fragile X gene, full length transcript isoform sequencing (Iso-Seq), long read de novo assembly methods (HGAP/Falcon), human structural variation sequencing (10-fold WGS long-read coverage), sequencing compound somatic mutations in cancer, gene editing outcome profiling, centromere sequencing, haplotype phasing, synthetic biology construct sequencing, and enrichment of unamplified DNA using CRISPR/Cas9 for repeat expansion loci with direct methylation profiling for epigenetic analysis. Luke is on the steering committee for the NIST Genome in a Bottle Initiative, and is part of the PacBio team supporting the 1,000 Genomes Project Structural Variation working group, and the Human Genome Reference Consortium (GRC). He has previously represented PacBio for the Global Microbial Identifier (GMI) project, the 100k Pathogen Project, and led numerous collaborative projects with the Department of Energy’s Joint Genome Institute (JGI) focused on genome, transcriptome and epigenome sequencing and analysis across their microbial, fungal and plant programs. References: Kubitza M, et al. (1999) Influence of host microvascular environment on tumour vascular endothelium. Int J Exp Pathol. Smith C, et al. (2012) Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia. Nature. Loomis EW, et al. (2013) Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene. Genome Research. Chin Chen-Shan, et al. (2013) Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nature Methods. Sharon D, Tilgner H, et al. (2013) A single-molecule long-read survey of the human transcriptome. Nature Biotechnology. Melters D, et al. (2013) Comparative analysis of tandem repeats from hundreds of species reveals unique insights into centromere evolution. Genome Biology. Kong N, et al. (2013) Automation of PacBio SMRTbell 10 kb template preparation on an Agilent NGS Workstation. Agilent Technologies, http://www.chem.agilent.com/Library/applications /5991-4482EN.pdf Witherspoon D, et al. (2013) Mobile-Element Scanning (ME-Scan) of Active LINE-1 Elements in Humans using Single Molecule, Real-Time (SMRT) Sequencing. ASHG Annual Meeting, Workshop. http://tinyurl.com/nez23sh Thomas S, et al. (2014) Long-Read Sequencing of Chicken Transcripts and Identification of New Transcript Isoforms. PLoS One. Tilgner, Hagen et al. (2014) Defining a personal, allele-specific, and single-molecule long-read transcriptome. Proceedings of the National Academy of Sciences. Pretto D, et al. (2014) Differential increases of specific FMR1 mRNA isoforms in premutation carriers. Journal of Medical Genetics. Chaisson, MJP, et al. (2014) Resolving the complexity of the human genome using single-molecule sequencing. Nature. doi: 10.1038/nature13907. Weiand M, et al. (2014) High-Throughput Sample Preparation for SMRT® Sequencing. Plant & Animal Genome XXII. Hendel A, et al. (2014) Quantifying Genome-Editing Outcomes at Endogenous Loci with SMRT Sequencing. Cell Reports. Korlach J, et al. (2014) Resolving the ‘dark matter’ in genomes. 64th Annual Meeting of The American Society of Human Genetics. Ekholm J, et al. (2015) Highly contiguous de novo human genome assembly and long-range haplotype phasing using SMRT Sequencing. Genomics of Rare Disease: Beyond the Exome Van Deynze A, et al. (2015) Using Spinach to Compare Technologies for Whole Genome Assemblies. Plant & Animal Genome XXIII. Gordon S, et al. (2015) Widespread Polycistronic Transcripts in Fungi Revealed by Single-Molecule mRNA Sequencing. PLoS One. Blow M, et al. (2015) Bacterial epigenomics. Joint Genome Institute (JGI), Genome Technologies Workshop. http://tinyurl.com/npktjba Wenger AM, et al. (2016), Effect of coverage depth and haplotype phasing on structural variant detection in human genomes from PacBio long reads. 66th Annual Meeting of The American Society of Human Genetics (3206T) Tassone F, et al. (2016), Alternative splicing in FMR1 premutation carriers. 66th Annual Meeting of The American Society of Human Genetics (3323T) Ashely E, et al. (2016) Towards Precision Medicine. 66th Annual Meeting of The American Society of Human Genetics (PacBio Workshop). http://stream.dcasf.com/webinar/euan-ashley-towards-precision-medicine-pacbio-ashg-2016-workshop-live/