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
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.comRoom: 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
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
Looking beyond the whole genome: An overview of Targeted Next Generation Sequencing
LEE Chee Yang, Ph.D.
Senior Field Application Scientist
Room: Hall C (Omics & Others) Date/Time: June 20, 2019 2.20-2.50 pm