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:19 patients with syndromic ImpDis were 8 clinically diagnosed with Silver-Russell syndrome (SRS), 7 with Prader-Willi syndrome (PWS), and 4 with Beckwith-Wiedemann syndrome (BWS).array chromosomal microarray (CMA) was performed for 12 patients
Project description:Illumina Infinium HumanMethylation450 assay was used to study genome-wide DNA methylation profiles of Silver-Russel sydrome (SRS) patients.
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: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
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).