Project description:Genome-wide SNP genotyping array can genotyped SNP highthroughly. It can be used in many aspects, such as phylogeny relationships, genome-wide association studies, copy number identification.
2013-05-09 | GSE46733 | GEO
Project description:Trichophyton SNP Identification
Project description:Infantile neuroaxonal dystrophy (INAD) is an ultra-rare early-onset autosomal recessive neurodegenerative disorder due to PLA2G6 variants. Copy number analysis of SNP arrays was performed on one INAD patient sample.
Project description:The identification of surrogate single nucleotide polymorphism (SNP) markers that can predict responses to preoperative chemoradiotherapy (CRT) in rectal cancer patients. Genome-wide association studies in clinical populations are theoretically capable of identifying markers that are capable of tumor regression after CRT. We used Affymetrix’s SNP Array 6.0 to detail genetic polymorphism of patient’s group showing differential responsiveness to preoperative CRT and profiled SNP biomarkers.
Project description:The Affymetrix Genome-Wide Human SNP 6.0 and CytoScan HD arrays are high-resolution SNP platforms for studying copy number variations in the human genome. It is widely being used in both clinical and research settings for identifying causative variants as well as interrogating the genome for benign variants. We employed this platform to investigate the burden of clinically relevant rare (<0.1% in population controls) CNVs in individuals with schizophrenia, stratified by IQ group. We genotyped 540 unrelated probands with schizophrenia and applied rigorous methods to detect genome-wide CNVs. All rare CNV >500 kb and all rare exonic CNV >100 kb were adjudicated for clinical relevance following the American College of Medical Genetics guidelines for CNV interpretation. Our results revealed that burden of pathogenic CNVs is significantly greater for individuals with schizophrenia and low IQ compared to those with normal to superior IQ
Project description:The identification of surrogate single nucleotide polymorphism (SNP) markers that can predict responses to chemotherapy could enable the efficient selection of patients for various regimens. Genome-wide association studies in clinical populations are theoretically capable of identifying markers that are capable of influencing drug responses. We used Affymetrix’s SNP Array 6.0 to detail genetic polymorphism of patient’s group showing differential responsiveness to various regimens and profiled SNP biomarkers for various regimens.