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Test Engineer, Ginkgo Bioworks

Ribosomal ribonucleic acid (rRNA) accounts for up to 99 percent of the total RNA depending on the cell type. Therefore, it’s critical to deplete this highly abundant RNA prior to doing RNA-seq experiments to maximize coverage of target RNA and improve sequencing economy. There are different commercial bead-based rRNA depletion or polyA enrichment kits. However, both methods are inefficient and introduce 3’ biases.  In addition, they are limited to only certain species.

 This webinar will discuss a species-specific rRNA depletion method that uses the Kapa RNA HyperPrep Kit with RiboErase in combination with customized oligonucleotides. The method enables enrichment of sequencing reads on low-abundance transcripts. In addition to lowering cost by sequencing target RNA, this depletion method generates a more comprehensive transcriptome that retains precursor mRNAs and non-coding RNAs.

 Join this webinar to learn:

How to generate species-specific rRNA probes for optimal rRNA depletion

How to decrease the cost of RNA-seq by enriching for only the RNA that matters

How to generate more comprehensive transcriptome data

How to generate RNA-seq data from degraded RNA

Director of Genomics and Genome Informatics,
Scripps Research Translational Institute

This webinar will provide an overview of polygenic risk scores, which aggregate dozens of genetic variants that have been linked to disease risk in genome-wide association studies (GWAS) into a single score.

Recently there has been growing interest in polygenic risk scores for predicting disease risk, expanding on the value of large GWAS. Various efforts have begun to demonstrate the utility of polygenic risk profiling to identify groups of individuals who could benefit from the knowledge of their probabilistic susceptibility to disease.

This talk will review the evidence supporting the personal and clinical utility of polygenic risk profiling and how it can be transformative for clinical care as well as drug discovery.

More specifically this webinar will:

• Describe the polygenic basis for common diseases.

• Describe how polygenic risk scores are generated. What are the various strategies?

• The utility of polygenic risk scores from multiple perspectives.

• Discuss “Genotype First” as a framework for the ethical use of genetics.

Tue
Jun
18
1:00 pm2019
Sponsored by
ArcherDX

Clinical Genomics of NTRK Fusion Detection in Cancer

Genome Webinar

Associate Director, Laboratory for Molecular Pediatric Pathology; Staff Pathologist, Boston Children's Hospital; Instructor of Pathology, Harvard Medical School

This webinar will discuss background and clinical genomics of NTRK fusion detection in cancer. NTRK fusions are the focus of new therapeutic options, but clonal and subclonal lesions are notoriously difficult to detect. This webinar will provide an overview and background about the increased role of these fusions, and latest trends in diagnosis, prognosis, and treatment, as well as a research case study on detection.

Join Dr. Alanna Church of the Laboratory for Molecular Pediatric Pathology and Staff Pathologist at Boston Children's Hospital to learn more about the increasing role of NTRK fusions:

  •  Overview and background of fusion mutations, specifically NTRK 1, 2, and 3
  •  Frequency overview and specificity needed for detection
  •  Overview of research case of utilizing NGS technology in detection.
Sponsored by

Chief Scientific Officer, TOMA Advanced Biomedical Assays, Impact Lab Group  

This webinar will discuss cell-free DNA prenatal screening in the era of genome-wide sequencing and factors influencing the clinical utility of expanded noninvasive prenatal testing (NIPT) menus.

NIPT by cell-free DNA analysis is recognized as the most effective method of prenatal screening for trisomies 21, 18 and 13, but the clinical utility of NIPT for rare and uncharacterized genomic imbalances is largely unknown. In order to understand how expanding uses of this technology may impact clinical care, laboratories and clinicians must understand what type of results to expect and the biological and technical factors that may influence the accuracy of these results.

In this webinar, Dr. Francesca Romana Grati of TOMA Advanced Biomedical Assays will review the current state of NIPT technologies as well as their expanding applications into rare and uncharacterized genomic disorders.

Dr. Grati will discuss:

  • Currently available NIPT technologies
  • Differences in genome-wide and targeted NIPT
  • Biological and technical factors that influence the accuracy of NIPT results
  • The clinical impact of screening for rare and uncharacterized genomic imbalances with NIPT
Thu
Jun
20
11:00 am2019
Sponsored by
Sophia Genetics

From Manual to Automated Library Prep: Implementation and Analytical Validation

Genome Webinar

Molecular Geneticist,
Medical Genetics Laboratory of Ospedale Pediatrico Bambin Gesù

This webinar will discuss how a clinical lab rapidly implemented a robust automated library preparation workflow that reduces hands-on time and increases sample throughput for a better diagnosis of kidney diseases.

The adoption of next-generation sequencing (NGS) in clinical laboratories has drastically changed the way genomic analyses are performed. With its ability to deliver comprehensive target coverage, NGS technology enables the detection of low-frequency variants and accelerates turnaround times for high sample volumes. But despite the vast improvements in sequencing methods that have decreased bias rates, data analysis can still be impaired by human errors during library preparation. Considering the complexity of the workflow and the elevated number of samples, library preparation remains a time-consuming and resource-intensive process, leaving many laboratories at increased risk of human error.

In this webinar, Dr. Dario Cacciadiferro, molecular geneticist at the Ospedale Pediatrico Bambin Gesù in Rome, will present how his laboratory has reduced sample-to-sample variability by adopting an automated NGS library preparation workflow. In particular, he will describe:

  • The process leading to the automation of the Nephropathies Solution (NES) by Sophia Genetics on the PerkinElmer Sciclone G3 NGS workstation
  • The analytical performance of the automated workflow versus the manual one
  • The application of the automated NES in resolving a complex clinical case  
Sponsored by

Global Product Manager, Genomics and Diagnostics Group,
Agilent Technologies

This webinar will focus on measurable residual disease (MRD) monitoring in post allogeneic hematopoietic cell transplantation (alloHCT) myelodysplastic syndrome (MDS) cases. 

Standard sequencing-based technologies have a limited ability to detect low-abundance mutations due to the inherit error rate of the sequencing technology and pre-analytic errors associated with PCR amplification and sequencing library construction. This approach is generally limited to the detection of mutations with variant allele frequencies (VAFs) of greater than 2.5 percent. 

Our speaker, Eric Duncavage, will discuss an approach his team used to address this issue, which used HaloPlex HS error-corrected sequencing coupled with high-coverage depths that allowed them to detect VAFs as low as 0.03%, or one tumor cell in ~1,600 cells. 

Dr. Duncavage’s team applied HaloPlex HS to bone marrows collected prior to and 30 days after transplant in 86 MDS patients by targeting previously identified somatic mutations. They found that 32 of 86 cases (37 percent) had at least one mutation at day 30 post-alloHCT with a maximum mutation VAF greater than 0.5 percent (equivalent to 1 mutant cell in 100 cells).

Dr. Duncavage will detail the study, which found that cases who progressed had a higher maximum mutation VAF 30 days after transplant compared to those who did not. Multivariate analysis confirmed that the detection of a mutation with a VAF greater than 0.5 percent 30 days after alloHCT was associated with an increased risk of progression and decreased progression-free survival. 

For Research Use Only. Not for use in diagnostic procedures.