Project description:The Affymetrix CytoScan 750K Array chip contains 200000 SNP markers and 550000 CNV markers, distributed across the entire human genome at an average density of approximately 1 marker/4kb (not covering all loci of the entire chromosome genome). It is used to detect clinically significant chromosomal microdeletions/microduplications, chromosomal subtelomer deletion syndrome, and other abnormal chromosomal copy number variations (CNVs) as well as loss of heterozygosity (LOH). In a case study of Zhangzhou Municipal Hospital of Fujian Province, copy number variation detection was performed on a fetus with Silver-Russell syndrome using CytoScan 750K Array chip, and variations in the corresponding region were identified.
Project description:Genomewide methylation analysis in Silver Russell syndrome patients compared to healthy controls Bisulphite converted DNA from the 24 samples were hybridised to the Illumina Infinium 450k Human Methylation Beadchip
Project description:We studied twenty-eight growth restricted patients (twenty-two with Silver-Russell syndrome, OMIM#180860) and their parents with the Affymetrix 250K Sty SNP microarray. All patients were molecularly undefined, and thus the aim was to look for copy number alterations that might contribute to the growth restriction. Aberrations found in parents were used to reduce the list of interesting variations to de novo variants.
Project description:Chromosomal microarray analysis (CMA) in prenatal diagnosis detects copy number variations (CNVs) in many fetuses; however, the low penetrance and phenotypic diversity of CNVs complicate genetic counseling, resulting in limited understanding of intrauterine ultrasound phenotypes linked to CNVs. In a retrospective analysis of 25,000 cases at Fujian Maternal and Child Health Hospital, 18,000 pregnant women underwent SNP array testing (December 2015 to June 2023).
Project description:Copy-number variants (CNVs) are large-scale amplifications or deletions of DNA that can drive rapid adaptive evolution and result in large-scale changes in gene expression. Whereas alterations in the copy number of one or more genes within a CNV can confer a selective advantage, other genes within a CNV can decrease fitness when their dosage is changed. Dosage compensation - in which the gene expression output from multiple gene copies is less than expected - is one means by which an organism can mitigate the fitness costs of deleterious gene amplification. Previous research has shown evidence for dosage compensation at both the transcriptional level and at the level of protein expression; however, the extent of compensation differs substantially between genes, strains, and studies. Here, we investigated sources of dosage compensation at multiple levels of gene expression regulation by defining the transcriptome, translatome and proteome of experimentally evolved yeast (Saccharomyces cerevisiae) strains containing adaptive CNVs.
Project description:Comparsion of proteomes of Campylobacter fetus subsp. fetus to compare protein level via iBAQ analysis, expression (by LFQ) and coverage between Campylobacter fetus subsp. fetus strain82-40 vs Campylobacter fetus subsp. fetus strain ATCC 27374