Project description:In order to evaluate the performance of CNV detection in next-generation sequencing platform in varied sample types, we employed chromosomal microarray analysis (CMA) for validation of the samples with NGS-based detection results (NCBI Sequence Read Archive with accession number SRA296708). Besides snp-array, we used a customized array Comparative Genomics Hybridization (aCGH, Agilent) approach for a cohort of clinical samples including early abortus, induced termination, prenatal samples and postnatal samples. CMA results were compared with NGS-based detection results. 100% consistency was obtained between NGS-based approach and CMA in pathogenic or likely pathogenic CNVs detection.
Project description:In order to evaluate the performance of CNV detection in next-generation sequencing platform in varied sample types, we employed chromosomal microarray analysis (CMA) for validation of the samples with NGS-based detection results (NCBI Sequence Read Archive with accession number SRA296708). Besides array Comparative Genomics Hybridization (aCGH, Agilent) , we used a commerical SNP-array (Illumina) including early abortus, induced termination, prenatal samples and postnatal samples. CMA results were compared with NGS-based detection results. 100% consistency was obtained between NGS-based approach and CMA in pathogenic or likely pathogenic CNVs detection.
Project description:Over the last 60 years, marine natural products have had major economic and commercial importance. The development of a National Marine Biodiscovery Laboratory in Ireland (NMBLI), located at the Marine Institute (Oranmore), aims to strengthen Ireland’s capacity as research leaders in marine biotechnology and in particularly marine natural products chemistry. The NMBLI houses an Irish marine repository derived from marine macro-organisms collected in Irish coastal waters. The aim of this project is to collect organisms for the marine repository and identify samples of interest for chemical investigation. Other than the development of the laboratory at the marine institute (Oranmore) with the appropriate facilities and procedure to undertake biodiscovery research, the outcomes of this project are to identify bioactive marine natural products from Irish marine life.
Project description:Purpose: Next-generation sequencing (NGS) has revolutionized systems-based analysis of cellular pathways. The goals of this study are to explore RNA-seq results for AML samples.
