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This webinar discusses what it takes to begin realizing precision medicine in a comprehensive clinical infrastructure, with insights from the Colorado Center for Personalized Medicine (CCPM).

Kristy Crooks, Assistant Professor at the University of Colorado Denver, describes how CCPM approached implementation of personalized medicine and collaborated with BC Platforms to create a system for clinically-compliant workflows from raw data to report generation.

Genetic data production and integration into clinical workflows is rapidly accelerating with the rise of new technologies and consumer interest. The accumulation of large-scale health and genetic data creates significant opportunities for new insights to improve patient care and accelerate therapeutic development. There is a demand for efficient, end-to-end data processing, but a bottleneck in data management and interpretation contributes to challenges in realizing the potential of this data.

To address these challenges, CCPM, in collaboration with BC Platforms, developed an automated pipeline that enables high-throughput processing of Illumina genotype array data, pharmacogenetics reporting for clinical decision support, and direct delivery of these results through integration with the Electronic Health Record (Epic). This webinar will highlight insights gained while building this system and ways to tackle challenges associated with the shift to data driven healthcare.

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December 02, 2019
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Powering Precision Medicine at Apollo Genetics

Partner Webinar

Apollo Genetics, located in Baton Rouge, Louisiana, performs next-generation sequencing (NGS) diagnostics for cancer and pharmacogenetics. The CLIA-certified, CAP-accredited lab performs this testing for reference labs, physicians and directly to individuals. In 2019, Apollo acquired MedCompGx, also a Louisiana-based provider of NGS testing for cancer and pharmacogenetics. Today, the combined organization continues to deliver high-quality technology-driven services.

Next-generation sequencing is complex and requires data-intensive analysis. Learn how Apollo Genetics is leveraging software from Sunquest – Sunquest Mitogen LIMS and Sunquest Mitogen Genetics – across the newly combined organization to scale for volume and complexity, while maximizing efficiency and quality for the patients and physicians they serve.

Download the transcript that accompanies this eCase Study.

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This webinar provides an educational background on molecular profiling using small RNA analytics.

The future of medicine is one of precision; targeting molecular pathways with the right therapy for the right patient at the right time. The industry has moved on from analyzing DNA alone and now exploring the other 98% of data locked within the genome. While DNA information is static, RNA information is dynamic: in a healthy organism, RNA acts as a "switch," turning on and off in certain cells at certain times. When the wrong switches get turned on or off at the wrong time, this can lead to disease.

In this webinar, Dr. David W. Salzman of Gatehouse Bio describes an approach for identifying small RNA signatures using their sRNAlytics platform. Small RNA signatures serve as effective classifiers used to define molecular profiles of subtypes of disease across therapeutic areas.

Dr. Salzman also discusses how Gatehouse Bio is using this analysis to develop next-gen therapeutics by combining small RNA powered molecular profiling with new delivery mechanisms and advanced compounds. They have partnered with biobanks, academic research institutes, and drug developers to build an ecosystem that is focused on realizing their vision.

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This webinar will discuss eRD-GWAS, or "expression read depth genome-wide association study," a genome-wide approach for identifying genes whose expression patterns affect phenotypic traits.

To better understand the effect of gene expression on phenotypes, researchers at Iowa State University developed eRD-GWAS, a statistical method that identifies associations between variation in gene expression and variation in traits.

In this webinar, Iowa State's Patrick Schnable will share details of eRD-GWAS and discuss a study that used the approach in maize. 

After using RNA sequencing to assess transcription factor expression in five tissue types from 27 genetically distinct, inbred maize lines, Dr. Schnable and colleagues established an eRD-GWAS framework for assessing expression variation ties to phenotypic traits in a larger set of 369 inbred maize lines.

Dr. Schnable will share details of the study, which identified genes associated with 13 maize traits. He will also present a hypothesis that explains the high rates of true positive associations detected via eRD-GWAS.

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Research Technician, Jan Ellenberg Lab, European Molecular Biology Laboratory

Research Technician,  Jan Ellenberg Lab, European Molecular Biology Laboratory

Fluorescent proteins or self-labeling tags are invaluable tools for studying protein dynamics in living cells using fluorescence microscopy. However, quantitative imaging requires physiological levels of expression of the target protein of interest (POI), especially when stoichiometric interactions of the POI need to be investigated.

CRISPR has enabled researchers to tag virtually any target gene of interest, resulting in physiological levels of expression of the corresponding POI. However, the generation and selection of cellular clones bearing the correct edit — that is, the expected number of tagged alleles and an absence of extra integrations — requires quantitative assessment of the tag copy number.

This webinar will describe the use of dPCR as a quick method for quantitation of green fluorescent protein copy number in CRISPR-edited HeLa cells. The discussion will also include an introduction to dPCR working principles and post-acquisition data analysis methods.

Sponsored by
November 18, 2019
Sponsored by
Mission Bio

Simultaneous Single-Cell DNA and Protein Sequencing in AML Samples


This webinar will outline the results of a study that performed integrative single-cell genome and cell surface protein expression profiling of adult acute myeloid leukemia (AML) cases. 

Genomic studies of AML have identified mutations with varying allele frequencies, which suggests a step-wise acquisition of mutation in leukemogenesis. Bulk sequencing can provide prognostic information, but it cannot delineate clonal architecture at the single-cell level. Additionally, the complementation of immunophenotype with corresponding mutational analysis could elucidate important dynamics in the leukemic cell population, but has yet to be assayed in parallel.

In this webinar, Linde Miles of Memorial Sloan Kettering Cancer Center will share data from the study demonstrating that simultaneous single-cell sequencing of DNA and protein can identify populations of stem/progenitor cells with distinct clonal/mutational and protein expression profiles. She will also discuss how the method identified trends in protein expression when comparing multiple samples with similar mutations. 

Attendees of this webinar will learn about:

  • New DNA+protein capability from Mission Bio for simultaneous, targeted, single-cell DNA and protein sequencing
  • A novel 6-antibody cocktail in combination with a single-cell targeted DNA custom AML panel 
  • The relationship between mutational profile and cell surface protein expression in AML samples from six clinical research samples 
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This webinar discusses advances in detecting MET and NTRK variants in tumor samples, which holds significant potential for diagnostic and research applications.  

MET oncogenic variants leading to diverse exon 14 splicing alterations are emerging as a new predictive biomarker that would be sensitizing to MET-targeted tyrosine kinase inhibitors. The splice site DNA somatic variants result in RNA splicing-based skipping of MET exon 14, which supports targeted therapies.

Fusions in the NTRK1, NTRK2 and NTRK3 genes, which encode neurotrophin receptors TRKA, TRKB and TRKC, result in overexpressed kinase function, leading to oncogenesis in a wide variety of adult and pediatric solid tumors. Novel compounds have recently been developed that selectively inhibit TRK fusion proteins. As these alterations affect multiple histologies, detecting the presence of fusions across these genes greatly advances clinical cancer research.

In this webinar, Prof. Hans-Ulrich Schildhaus presents results from a study using a targeted, MALDI-TOF based method for the detection of MET exon 14 alterations and fusions across NTRK1, NTRK2 and NTRK3, and its applicability for routine screening.

Sponsored by
November 12, 2019
Sponsored by
Sophia Genetics

A Multi-Gene Sequencing Approach for Hereditary Cancer Syndromes


This webinar discusses a cancer center's hands-on experience with a targeted approach for clinical cases of hereditary cancers.

Next-generation sequencing (NGS) in routine genetic diagnostic practices offers a rapid and cost-effective analysis for identifying pathogenic variants associated with hereditary cancer syndromes. To date, the Laboratory of Medical Genetics at St. Elizabeth Oncology Institute in Bratislava has analyzed more than 2,500 families with suspected hereditary cancer syndromes using the NGS technology.

The adoption of NGS not only allows for the simultaneous analysis of multiple genes but also accelerates the turnaround time for high sample volumes. However multi-gene NGS applications also present new challenges, such as the management of big data, the accurate detection and classification of genetic variants.

In this webinar, Dr. Jana Ziburova, Laboratory Diagnostician at St. Elizabeth Oncology Institute, shares her experience and describe:

  • An approach to detect hereditary cancers using the solution from Sophia Genetics
  • Benefits and challenges of using multi-gene NGS in complex clinical cases
  • How to identify pathogenic variants in unexpected genes not directly related to the disease
Sponsored by
November 11, 2019
Sponsored by
Twist BioScience

Twist Panels for Sequencing Age-Related Mutation Patterns

Partner Webinar

In this on-demand webinar, Duane Hassane, Assistant Professor of Computational Biomedicine in Medicine at Weill Cornell Medical College, describes clonal hematopoiesis mutation patterns that inform the risk and timing of acute myeloid leukemia as many as 17 years prior to diagnosis as well as the development of a new CH detection platform.

Sponsored by
November 07, 2019
Sponsored by
Beckman Coulter

Maximizing Productivity in Urinary Tract Infection Testing


This webinar will discuss strategies for urinary tract infection (UTI) testing with the focus of detecting avoidable urine cultures.

UTIs are the most common infection leading to an antibiotic prescription after a physician’s visit. The appropriate use of antibiotics for patients that are correctly diagnosed with UTI will foster antimicrobial stewardship. The excessive use of antibiotics is one of the contributing factors to antibiotic-resistant bacteria, which have become a global public health concern.

Microbiology laboratories urgently need rapid screening methods for the detection of bacteria in urine samples, since several clinical studies have indicated that about two-thirds of these samples will not yield any bacteria or will yield insignificant growth when cultured.

Join Dr. Ranjana Hawaldar of Sampurna Sodani Diagnostic Clinic to:

  • Discuss how UTIs impact healthcare settings and laboratory workloads
  • Review current alternatives for UTI testing
  • Assess the relevant factors associated with urine culture candidate screening
  • Propose strategies to introduce a urine culture candidate screening process in the laboratory to avoid unnecessary urine cultures

P.A.C.E. credit is available for your participation.*

*Beckman Coulter Inc. is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E.® Program. These credits are recognized by the State of California. Most programs also provide State of Florida credits (with valid license number). At this time, we cannot issue continuing education credits for those who provide healthcare (or work for an institution that provides healthcare) in Massachusetts or Vermont.

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This webinar will provide an overview of the latest advances in genomics technology for preimplantation genetic testing (PGT), with a focus on the advantages of next generation sequencing (NGS) and comparative genomic hybridization (CGH) for specific indications.

Our first speaker, Anastasios Mitrakos, a PhD researcher in the Department of Medical Genetics of the National and Kapodistrian University of Athens and a molecular geneticist at Genesis Genoma Lab, will discuss the advantages of microarrays in embryo screening. 

Our second speaker, Joris Vermeesch of Katholieke Universiteit Leuven, will provide an overview of haplarithmisis — simultaneous haplotyping and copy-number profiling of DNA samples — and discuss its importance for PGT. 

Agilent's Jessie Theuns will also discuss the company's CGH and NGS solutions for PGT and how they are being implemented in labs. 

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This webinar discusses an approach that uses machine learning and epigenetic signatures to more effectively diagnose brain tumors.

New applications are emerging that use data-driven DNA methylation classifiers to vastly improve the accuracy of solid tumor classifications, especially for brain tumors and sarcoma. 

DNA methylation technology is becoming part of a new precision medicine paradigm for central nervous system tumor diagnostics that uses epigenetics as a more accurate tool than standard pathology to guide diagnostic decisions at the time of initial presentation.

In this webinar, Matija Snuderl of NYU Langone Medical Center shares details of his team's work developing and implementing DNA methylation-based classification of brain tumors in the clinical setting.

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This webinar will provide a look at how the Institute of Hematopathology in Hamburg, Germany, is implementing complex genomic testing for lung cancer. 

Lung cancer has become a prime example of the success of molecularly stratified therapies. A steady increase of therapeutically relevant biomarkers has underlined the need for complex diagnostic assays like hybrid capture next-generation sequencing (HC-NGS) technology, which allows for simultaneous detection of single nucleotide variants, insertions/deletions, copy number variants, and translocations on limited biopsy material.

The resulting information on tumor genotype is extensive, however, and requires sophisticated bioinformatic tools and experienced molecular biologists to precisely distinguish relevant alterations with likely pathological outcome from artefacts or polymorphisms. Reliable software solutions are required to aid precise pathological reporting and provide information on the appropriate biomarker-guided therapies as well as relevant supporting studies.

In this webinar, Dr. Markus Falk and Dr. Daniela Stefanie Schmidt from the Institute of Hematopathology will outline a study they performed to evaluate the Roche Diagnostics AVENIO Tumor Tissue Analysis Kit, an HC-NGS assay that includes 77 genes for expanded tumor profiling, on 24 lung cancer samples with known genotype.

Drs. Falk and Schmidt also discuss their use of Roche's NAVIFY Mutation Profiler software platform for pathological reporting. They will detail how they evaluated the platform for feasibility, accuracy, and the potential to save time in report generation.

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This webinar will provide an overview of how the Center for Applied Genomics at Children's Hospital of Philadelphia has optimized its next-generation sequencing (NGS) workflow using a combination of PerkinElmer's Sciclone automation technology and target capture chemistry from Twist Bioscience.

NGS library preparation has traditionally been a long process and lacked high throughput capabilities when performed manually. With Sciclone automation, the quality and speed of library preparation is drastically improved while simultaneously simplifying the workflow.

In this webinar, Dr. Renata Pellegrino of CHOP will share how her team has combined the Sciclone automated liquid handler with unique chemistry from Twist in order to scale projects without compromising high quality standards.

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This webinar tells the story of Versiti's journey in transforming genetic testing from a manual to a digitized process. It includes detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.

Versiti (formerly Blood Center of Wisconsin) specializes in a wide range of services, including esoteric diagnostic testing, such as immunology, hematology, oncology, and serology.

In this session, Dr. Valerie Trapp-Stamborski covers:

  • Bringing genetic testing onto a technical platform for improved efficiency, analysis, and reporting.
  • The anatomy of a novel variant assessment tool that is used to classify and assess variants of uncertain significance.
  • The organization's efforts around integrated reporting for improved diagnostic insights.
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Researchers have sequenced the genome of the depth-dwelling giant squid.

Prosecutors have charged a former Drexel University professor with theft for allegedly spending federal grant money on adult entertainment and other unrelated expenses, according to the Philadelphia Inquirer.


Chris Collins, a former US representative, has been sentenced to more than two years in prison in an insider trading case involving an Australian biotechnology firm, the New York Times reports.

In PNAS this week: Trypanosoma brucei transcripts, estimate of people at risk of inherited retinal disease, and more.

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