Pharmacogenetic (PGx) testing enables researchers to understand a
person’s genetic propensity for a therapeutic response or an adverse
reaction to particular medications. Recently the NIH’s Precision
Medicine Initiative has begun a nationwide effort to individualize a
subject’s treatment program, while the FDA has already included PGx
information in over one hundred drug labels. Serious drug reaction
events are likely to become more prevalent as more drugs become
available and the number of pharmaceuticals each person is taking
increases. To understand the occurrence of these events, sequencing
genomic regions associated with metabolism of a wide-spectrum of drug
classes can help inform clinical researchers, and better characterize
the frequency of known and novel haplotypes within validated genes
involved in drug metabolism pathways.
In this presentation, we will describe a method and workflow for targeted pharmacogenetic gene sequencing using Kailos’ TargetRichTM PGxComplete assay.
The latest NovaSeq advancements have arrived—delivering unprecedented scalability and flexibility for next-generation sequencing (NGS). Discover how the S4 flow cell allows you to use the NovaSeq 6000 System to take your research to the next level.
Join Gary Schroth, Illumina Distinguished Scientist, to learn about these latest advancements with the NovaSeq 6000 System. See how the S4 can provide you the highest throughput of any sequencer. Finally, with the new NovaSeq Xp workflow, you can expand your research, giving you more flexibility than ever before.
Medical societies now recommend that all women, regardless of age, be offered screening and diagnostic testing for aneuploidy during pregnancy.1-2 Noninvasive prenatal testing (NIPT) is a newer screening option that utilizes the presence of cell-free DNA in a pregnant woman’s blood originating from the pregnancy. Whole-genome sequencing-based NIPT can screen for common aneuploidies (trisomy 21, trisomy 18, trisomy 13, and certain sex chromosome aneuploidies) with greater accuracy than other available screening modalities, resulting in a significant reduction in false positive rates and, subsequently, potential reduction in invasive procedures in healthy pregnancies.3
In this webinar, Tina Ziainia, MD, FACOG, an Obstetrician-Gynecologist affiliated with Sharp HealthCare, provides insight and expertise on successfully implementing NIPT into a busy practice. Having been in practice for over 17 years and having offered NIPT since 2013, she’ll also discuss prenatal screening options, review the latest ACOG and ACMG screening guidelines, and identify helpful resources for both you and your patients.
1. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.
2. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal
screening for fetal aneuploidy, 2016 update: a position statement of
the American College of Medical Genetics and Genomics. Genet
Med. 2016: doi:10.1038/gim.2016.97.
3. Bianchi DW, Rava RP, Sehnert AJ. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;371(6):578.
Brugada Syndrome belongs to a family of rare inherited cardiac disorders that can lead to sudden cardiac death. Rare genetic variants in the SCN5A gene can be identified in ~20%* of cases with Brugada Syndrome, while the genetic basis in the others remains unresolved.
Ongoing studies, combining data from multiple genomic methods, are helping to elucidate the genetic basis of Brugada Syndrome and other complex cardiac disorders with the aim of improving patient care in the future.
Register for the webinar to hear Professor Connie Bezzina present data from her laboratory and ongoing collaborative studies with the Brugada Syndrome Genetics Consortium.
This webinar will provide an overview of the development, validation and clinical evaluation of PathoQuest’s iDTECT Blood. This CE IVD test represents an application of NGS-based shotgun metagenomics to the field of infectious disease diagnosis. The test provides microbiologists and clinicians a precision diagnostics tool allowing individualized antimicrobial treatment decisions in patients where current microbiological methods frequently fail to identify a responsible pathogen. Both the sample preparation and the bioinformatic pipeline have been optimized to provide high sensitivity and accuracy and an actionable report. Clinical results from a prospective study recently published in Clinical Microbiology and Infection will also be discussed.
Mechanisms of microbial pathogenicity have been extensively analyzed using a broad spectrum of methods, which are driven largely by the technologies available at that time. As animal experimentation gave way to in vitro methods, specific pathogens were systematically investigated as individual dominant clones and colonizers. With the arrival of next-generation sequencing, microbiomes of very diverse habitats are being described. Thus, the microbiome of newborns versus those of the elderly are now prescribed, also the transition and shift in complexity and specificity of bacteria from the oral cavity through to the gut compared to the skin and respiratory are now cataloged and mapped across communities and in response to stress and stimuli. This tremendous leap in deciphering the human microbiome has ushered a new era of microbiology in which formidable challenges in establishing the foundation of taxonomy, dynamics and function of the residential microbial communities dominate.
This talk will present the progress made in metagenomics and the use of largely unassembled sequences in constructing the microbial communities forming the human microbiome. The knowledge assembled from microbial whole genome sequences, and the metabolic traits of the human flora are perhaps the most significant framework for the construction of reference microbiomes that can drive research into how transient pathogens establish in new niches and drive the shift from health to disease.
The Webinar Series will feature HLA laboratory directors presenting case studies from samples prepared with TruSight HLA , sequenced with Illumina next-generation sequencing (NGS) MiSeq or MiniSeq systems, and analyzed using TruSight HLA Assign software.
Discover a new era of sequencing with the NovaSeq Series. Join us for a live webinar event to see firsthand how we are redefining what is possible with high-throughput sequencing. Built from the ground up to fulfill your scientific visions, the NovaSeq Series gives you the flexibility and scalability to complete projects faster and more economically than ever before across a broad range of applications.
Webinar at a glance
Simplifying and Expediting Genomic Workflows with Integrated Informatics.
Until now, managing, analyzing, and interpreting genomic data has been an arduous process that required disparate data systems and the need to assemble a diverse set of software applications.
In this succinct webinar, we address how BaseSpace Variant Interpreter (Beta), the newest member of the BaseSpace Informatics Suite, can help clinical research labs quickly identify, annotate, and classify disease-relevant variants and summarize significant findings in one report. Integrated with BaseSpace Sequence Hub, BaseSpace Variant Interpreter enables rapid extraction to biological insight while increasing a genomic clinical research lab’s operational efficiency with a scalable secure solution.
This webinar is part of a series exploring BaseSpace Informatics Suite. Details of additional events will be presented during the webinar.
Join Dr Tracy Prosen to better understand the performance
characteristics of noninvasive prenatal testing (NIPT), with a special
focus on positive predictive value (PPV).
After attending, you’ll be able to:
• Describe how PPV varies for different conditions and in different testing populations
• Calculate PPVs for effective counseling of patients with positive NIPT results