Complete “Sample-to-Result” Highly Automated NGS and qPCR Workflow for Clinical Diagnostics
Poster Dec 13, 2017
Elian Rakhmanaliev, Tatiana Ivanova, Yin Kum Ng, Alex Yeo, Harry Suhardi, Caroline Villy, Mei Qi Yee, Kevin Tan, Amanda Fan, Andy Soh, Pramila Ariyaratne, Si Kee Tan, Jocelyn Wong, Jiang Xia, Grace Tan, Jasmin Ang, John Ong, Charlie Lee, Gerd Michel, Wen Huang
Sanger sequencing and real-time PCR methods have been the standard molecular methods in clinical diagnostics for decades. Deep sequencing or Next Generation Sequencing (NGS) technology revolutionized the field of genomics, transcriptomics and metagenomics and is now rapidly becoming a routine method in different areas of clinical diagnostics such virology, oncology, drug-resistance monitoring, non-invasive prenatal tests, microbiology, precision medicine, etc.
Vela Diagnostics developed complete (“Sample-to-Result”) highly automated multi-purpose Sentosa workflow, which consists of: 1) a robotic liquid handling system for nucleic acid extraction, PCR set-up and/or NGS library preparation (Sentosa SX101); 2) instruments for real-time PCR or template preparation and deep sequencing (Ion Torrent's PGM system); 3) kits for nucleic acid extraction, target specific real-time PCR-based tests, NGS library preparation assays and reagents for deep sequencing; 4) assay specific applications, and 5) data analysis and reporting software. Different diagnostic applications employ the same robotic platform for qPCR set-up and preparation of NGS libraries. In less than 5 years Vela Diagnostics developed 7 NGS-based viral and oncology assays and more than 20 qPCR-based viral, microbial and oncology CE-IVD tests, which can be run on the same system. In addition, several extraction kits were developed to isolate nucleic acids from various types of clinical samples, including FFPE, whole blood, plasma/serum, swabs, sputum, stool and urine.
Sentosa qPCR and NGS workflow appears as a robust and efficient in vitro diagnostics (IVD) tool for the detection and/or quantitation of a wide range of bacterial and viral pathogens as well as mutations in human genes. Such comprehensive combined NGS and qPCR workflow that can help fill some existing gaps in the quality of molecular diagnostics will take the necessary steps towards improving patient outcomes
Characterization of a Type 2 diabetes-associated islet-specific enhancer cluster in STARD10 by genome editing of EndoC-βH1 cellsPoster
Genome-wide association studies (GWAS) have identified more than 100 genetic loci associated with type 2 diabetes. The majority of these are located in the intergenic or intragenic regions suggesting that the implicated variants may alter chromatin conformation. This, in turn, is likely to influence the expression of nearby or more remotely located genes to alter beta cell function. At present, however, detailed molecular and functional analyses are still lacking for most of these variants. We recently analysed one of these loci and mapped five causal variants in an islet-specific enhancer cluster within the STARD10 gene locus. Here, we aimed to understand how these causal variants influence b-cell function by alteration of the chromatin structure of enhancer clusterREAD MORE
Psychiatric Risk Gene Cacna1c and Early Life Stress: Potential Gene-Environment interactions?Poster
Early life stress (ELS) is highly associated with development of psychopathology
and mood disorders in adulthood. Genetic studies have identified variation in the gene calcium voltage-gated channel subunit alpha1C (CACNA1C) to increase risk for several psychiatric disorders. This poster assessed the expression of Cacna1c following prepubertal stress.
Young Adult Women’s Relationship Status and HPV Risk Perceptions: A Barrier to HPV Vaccination?Poster
Human papillomavirus (HPV) vaccine rates continue to be low in the United States. Young women ages 18-26 years are eligible for catch-up vaccination but previous research shows that relationships status and percieved risk may be barriers to HPV vaccination. The purpose of this quantitative study was to assess the association between relationship status and perceived risk for HPV among young adult women.READ MORE
3rd International Conference on Diagnostic Microbiology and Infectious Diseases
Sep 24 - Sep 25, 2018