Recent GenomeWebinars

Principal Investigator, Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital 

Chief Medical Officer, SomaLogic

In this on-demand webcast, Robert Gerszten of Massachusetts General Hospital will describe an ongoing project that is integrating metabolic and proteomic profiling to gain a better understanding of cardiometabolic disease.

In previous studies, Dr. Gerszten and his colleagues identified and validated metabolite profiles of those destined to develop overt diabetes mellitus. The strongest predictors of future diabetes included specific amino acid and lipid species, as well as 2-aminoadipic acid. These metabolites were found to predict diabetes mellitus above and beyond clinical risk factors and biochemical markers.

By integrating metabolite data with genome-wide scans, Dr. Gerszten and colleagues have identified 23 novel genetic determinants of human metabolism, including 8 loci previously implicated in human diseases.

More recently, Dr. Gerszten's group is complementing these mass spectrometry-based small molecule studies by integrating the Somascan apatamer-based proteomic technology into the work. Dr. Gerszten discusses how this approach is expected to lead to a more systematic understanding of cardiometabolic disease.

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11:00 am2015
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Finishing Genomes with Long Span NGS Reads


Research Project Leader, Institute of Experimental Botany, Olomouc, Czech Republic 

Doctoral Candidate, Harrison School of Pharmacy, Auburn University

Founder and Chief Scientific Officer, Lucigen

This online seminar describes new technology capable of generating mate-pair sequencing reads up to 50 kb in length, enabling de novo genome assembly, closure, and finishing on the Illumina or Ion Torrent next-generation sequencing platforms. 

Despite advances in NGS technology, true closure and finishing of genomes or bacterial artificial chromosomes remains extremely difficult. NGS instruments produce gigabases per run, but the short read lengths and small size of sequenced fragments result in gaps, misassembled contigs, collapsed repeats, and missing sequences, leaving these regions to be finished manually, if at all. 

With new long span NGS read technology, however, user-defined 2-8 kb mate-pair or 10-20 kb mate-pair libraries can be produced with bead-based or gel purification protocols, with the potential for up to 100 kb mate-pair libraries in the future. Featured speakers will highlight real-world applications of this technology and the utility of long-span mate-pair libraries for genome closure. 

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11:00 am2014
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Novel Applications of NGS in Cancer Diagnostics


Dr. Büttner is Professor and Chairman of the Institute for Pathology at University Hospital Cologne and Co-founder and Chief Scientific Officer, Targos Germany. He is a co-founder of the Network for Genomic Medicine in Lung Cancer.

Dr. Devgan is the head of Biological Research Content, Qiagen. He received his PhD in molecular biology and conducted post-doctoral research at Harvard Medical School before moving to the biotechnology industry.

This online seminar, recorded November 19, addresses new applications for next-generation sequencing in routine histopathological diagnostics and molecular pathology.

Reinhard Büttner, director of the Institute of Pathology at Cologne University Hospital, discusses how his team is integrating genomic information into cancer classification.

His presentation covers five key areas in which NGS is changing cancer diagnostics:

      1. Somatic genomic or epigenomic alterations acquired during carcinogenesis, which may be used for disease classification in combination with conventional morphological classifications.
      2. Oncogenic driver lesions, which provide molecular targets for prediction of effective and selective therapies.
      3. Genomic alterations in signal transduction cascades and gene expression patterns, which may be used as prognostic parameters for predicting the need and extent of adjuvant therapy.
      4. Genomic profiling for differentiating metastases from tumors of unknown primary and correct tumor staging.
      5. Mutational profiling of circulating tumor DNA, which may enable monitoring the response of tumors to therapy and the development of secondary resistance.

Vikram Devgan, head of Qiagen's Biological Research Content business, follows Dr. Büttner's presentation with a short review of current NGS technologies and applications of Qiagen's NGS technologies for molecular and predictive cancer diagnostics. He will cover the general principles of targeted enrichment panels design for NGS and the key factors that determine a successful NGS run.

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Director of the Clinical Genomic Sequencing Program, Greenwood Genetic Center 

This online seminar provides a first-hand look at how one clinical diagnostic laboratory is addressing the data-management challenges associated with high-throughput clinical genomics. 

Julie Jones, Director of the Clinical Genomic Sequencing Program at the Greenwood Genetic Center, shares insights on integration of next-generation sequencing data in clinical diagnostics. 

Dr. Jones will address how variant assessment and reporting workflows are set up at GGC, with a focus on panels, on full-exome sequencing, and on integrating copy number variant and NGS data. The presentation will include concrete clinical cases to illustrate the diagnostic workflow. Dr. Jones also shares notes on how labs can address workflow automation, clinical validation, compliance, and accreditation through the adoption of a standardized software platform, and review how GGC uses Cartagenia’s Bench Lab software platform to automate and streamline the analysis, interpretation, and reporting workflow for next-generation sequencing data in a diagnostic laboratory. 

Cartagenia's Bench Lab was developed to reduce turnaround time; generate clinical grade lab reports; manage increasing volumes of data; interact with referring physicians; and to allow labs to confidently interpret, report, and share genomic variants. 

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