Sponsor Talk

Illumina is a leading developer, manufacturer, and marketer of life science tools and integrated systems for large-scale analysis of genetic variation and function. Illumina’s systems and solutions are enabling studies and testing for the spectrum of preconception, pregnancy, new born screening and genetic health.

Genetic Disease Testing using Next Generation Sequencing

Heidi Cheng, Ph.D.

Senior Sales Specialist, Reproductive and Genetic Health (RGH)-Illumina Singapore 2019-present

llcheng@illumina.com

Room: Hall A (Human & Medical Genetics) Date/Time: June 20, 2019 2.20-2.50 pm

SOPHiA Clinical Exome Solution: Big Panel to Answer Big Questions

(Anne) Shun Ming Yuen, Ph.D.

Subject Matter Expert for APAC at SOPHiA GENETICS

Rare diseases affect approximately 8% of the Thai population. Lack of knowledge about the symptoms and cause of such diseases can delay the establishment of an accurate diagnosis, preventing patient access to the right medical procedure or accurate counselling for pregnancies. Hence, there is a growing interest in implementing Clinical Exome Sequencing in the diagnostic workflow, as it enables the analysis of all the clinically relevant regions of the genome with one single experiment. However, this kind of approach faces two challenges: (i) the extend of the targeted genomic regions that can affect the uniformity and the performance of the analysis and (ii) the huge number of detected variants that lead to a complex variant interpretation workflow. Here we present the SOPHiA Clinical Exome Solution (CES), a molecular diagnostics application that bundles a smart capture-based kit with the analytical power of the SOPHiA platform. Expertly designed, the solution covers over 4’400 disease-related genes, offering superior coverage uniformity and high-on target reads for the simultaneous detection of all types of genomic variants (SNPs, Indels, CNVs). The presentation will firstly focus on the robust analytical approach that has been adopted to confidently call CNVs for 98.1% of the panel (4,408 genes) with a 2-5 exons resolution. Subsequently, we will show the prioritization and filtering strategies (including Familial Variant Analysis), that can be applied to simplify data visualization and interpretation and narrow the number of detected variants down to the most relevant ones. Finally, we will demonstrate the high diagnostic value of CES in solving a real clinical case, where the affected proband and both parents were analyzed.

Room: Hall B (Agricultural & Applied Genetics) Date/Time: June 20, 2019 2.20-2.50 pm

Looking beyond the whole genome: An overview of Targeted Next Generation Sequencing

LEE Chee Yang, Ph.D.

Senior Field Application Scientist

The advancement of high-throughput technologies, such as next-generation sequencing (NGS) is providing novel insights into the molecular basis of disease, including complex diseases such as Cancer. In addition, the dramatic increase in sequencing data throughput from such platforms has also enabled researchers to study complex genomes of many different non-human species, including agricultural plants and animals, as well as microbes.This have revolutionized the discovery and understanding of rare polymorphisms, structural variants, novel transcripts and methylation states for a wide scope of studies on cancer, mendelian disorders, phenotype association studies and so on. The Agilent Target Enrichment Solution is a target enrichment system allows next-generation sequencing users to expand beyond just sequencing the whole genome, but to focus and analyze specific genomic regions or loci with unprecedented depth and accuracy with better throughput and scalability.Here, we discuss the Agilent target enrichment solution from library prep, target enrichment, sample QC, automation and data analysis that enable a streamlined workflow tailored to meet specific needs for target coverage, throughput and turn-around time for comprehensive profiling of variants.

Room: Hall C (Omics & Others) Date/Time: June 20, 2019 2.20-2.50 pm

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