Project description:We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in two boys with neurodevelopmental disorders and epilepsy and their unaffected parents
Project description:We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in children with ID/DD, ASD and MCA and their unaffected parents
Project description:We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in a girl presenting an apparent microcephaly with mild dysmorphic facial features, delayed psychomotoric development and central hypotonia.
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: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:This data set contains bacteria isolated from corals. The bacteria were cultured and tested in a biological assay against pathogenic bacteria that may be involved in Stony Coral Tissue Loss Disease. The bacteria in this data set include pathogenic and potentially probiotic bacteria.
Project description:This data set contains bacteria isolated from corals. The bacteria were cultured and tested in a biological assay against pathogenic bacteria that may be involved in Stony Coral Tissue Loss Disease. The bacteria in this data set include pathogenic and potentially probiotic bacteria.
Project description:We show that mitochondrial aconitase, ACO-2, a Krebs cycle enzyme that catalyzes the conversion of citrate to isocitrate, inhibits immunity against pathogenic bacteria in C. elegans. We found that genetic inhibition of aco-2 enhanced mitochondrial unfolded protein response, subsequently upregulating ATFS-1 transcription factor, which contributed to enhanced immunity against pathogenic bacteria.
Project description:Nearly all bacteria live in microbial assemblages such as biofilms and granules with a continuum of chemical gradients. Each of these layers provide a niche selective for specific bacteria and functions. A gentle extraction approach based on a cation exchange resin and defined shear was employed to collect single layers in microbial granules for microbial and chemical analysis. The use of an existing cation-exchange resin for gradual biomass disintegration, combined with NGS and proteome analysis have revealed a promising approach for investigating the identity and functions in multilayered biofilm structures.
