Integrated Next-Generation Sequencing and qPCR Workflow in Clinical Diagnostics
Poster May 27, 2016
Elian Rakhmanaliev, Tatiana Ivanova, Gerd Michel
Sanger sequencing and PCR methods have been the standard molecular methods in clinical diagnostics for decades. NGS technology revolutionized the field of genomics, transcriptomics and metagenomics and is now swiftly becoming a routine method in different areas of clinical diagnostics. Vela Diagnostics developed an integrated 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; 3) kits for nucleic acid extraction, 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. Vela Diagnostics offers 7 NGS and more than 20 qPCR 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. These unique abilities of the Sentosa workflow provide complete and relevant information to aid clinical decision-making and patient management.
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
P450 Induction in Cryopreserved Hepatocytes from PXR and CAR Nuclear Receptor Knock-out RatsPoster
The nuclear receptors pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are closely related transcription factors that regulate the expression of phase I (cytochrome P450s), phase II metabolizing enzymes and transporter genes in response to xenobiotics, including prescription drugs.READ 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.