نتایج جستجو برای: snp array
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A high-throughput and cost-effective single-nucleotide polymorphism (SNP) genotyping method based on a gold magnetic nanoparticle (GMNP) array with dual-color hybridization has been designed. Biotinylated single-strand polymerase chain reaction (PCR) products containing the SNP locus were captured by the GMNPs that were coated with streptavidin. The GMNP array was fabricated by immobilizing sin...
SNP Chart: an integrated platform for visualization and interpretation of microarray genotyping data
UNLABELLED SNP Chart is a Java application for the visualization and interpretation of microarray genotyping data primarily derived from arrayed primer extension-based chemistries. Spot intensity output files from microarray analysis tools are imported into SNP Chart, together with a multi-channel TIFF image of the original array experiment and a list of the actual single nucleotide polymorphis...
A case of pulmonary alveolar microlithiasis occurring in an inbred family is presented. A genome-wide analysis of the patient's genomic DNA using a high-density single nucleotide polymorphism (SNP) array revealed a small intragenetic mutation at SLC34A2. The results suggest that the high-density SNP array has the power to identify a recessive disease gene(s) even in the analysis of only a singl...
High-density single nucleotide polymorphism (SNP) array is a recently introduced technology that genotypes more than 10,000 human SNPs on a single array. It has been shown that SNP arrays can be used to determine not only SNP genotype calls, but also DNA copy number (DCN) aberrations, which are common in solid tumors. In the past, effective cancer classification has been demonstrated using micr...
Genomewide linkage searches aimed at identifying disease susceptibility loci are generally conducted using 300-400 microsatellite markers. Genotyping bi-allelic single nucleotide polymorphisms (SNPs) provides an alternative strategy. The availability of dense SNP maps coupled with recent technological developments in highly paralleled SNP genotyping makes it practical to now consider the use of...
Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing
BACKGROUND Next generation sequencing (NGS) is now being used for detecting chromosomal abnormalities in blastocyst trophectoderm (TE) cells from in vitro fertilized embryos. However, few data are available regarding the clinical outcome, which provides vital reference for further application of the methodology. Here, we present a clinical evaluation of NGS-based preimplantation genetic diagnos...
In constitutional genetics research, analysis of single nucleotide polymorphisms (SNPs) provides invaluable insight into a number of conditions. When analysed in conjunction with copy number variation (CNV) data from array comparative genomic hybridisation (aCGH) arrays, this insight can aid in the identification of additional genetic variants to those yielded by the CNV data alone. Protocols f...
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