نتایج جستجو برای: snp array
تعداد نتایج: 154958 فیلتر نتایج به سال:
The presence of a duplication as well as a triplication in one chromosome is a rare rearrangement and not easy to distinguish with routine chromosomal analysis. Recent developments in array technologies, however, not only allow screening of the whole genome at a higher resolution, but also make it possible to characterize complex chromosomal rearrangements in more detail. Here we report a molec...
Recent advances in next-generation sequencing (NGS) and single nucleotide polymorphism (SNP) genotyping promise to greatly accelerate crop improvement if properly deployed. High-throughput SNP genotyping offers a number of advantages over previous marker systems, including an abundance of markers, rapid processing of large populations, a variety of genotyping systems to meet different needs, an...
Acute myeloid leukemia (AML) is a group of clonal diseases, resulting from two classes of mutation. Investigation for additional abnormalities associated with a well-recognized subtype, core-binding factor AML (CBF-AML) can provide further understanding and discrimination to this special group of leukemia. In order to better define genetic alterations in CBF-AML and identify possible cooperatin...
BACKGROUND We have developed a novel, microsphere-based universal array platform referred to as the Tag-It platform. This platform is suitable for high-throughput clinical genotyping applications and was used for multiplex analysis of a panel of thrombophilia-associated single-nucleotide polymorphisms (SNPs). METHODS Genomic DNA from 132 patients was amplified by multiplex PCR using 6 primer ...
This final report outlines the progress we have made in achieving the goals set out in the Young Investigator Award proposal entitled “Genomic Instability in MDS”. Significant progress has been made in the objectives of both Specific Aims; however, the greatest advancement has occurred in the characterization of chromosomal abnormalities in MDS using high-density SNP arrays. Therefore, we focus...
We read with interest the recent review by Santiago Munné entitled, “Preimplantation Genetic Diagnosis for Aneuploidy and Translocations Using Array Comparative Genomic Hybridization” (1). As part of the review of array comparative genome hybridization (aCGH), the author provides additional information on other 24-chromosome preimplantation genetic diagnosis/screening (PGD/PGS) techniques. As a...
Whole-genome sequencing in an isolated population with few founders directly ascertains variants from the population bottleneck that may be rare elsewhere. In such populations, shared haplotypes allow imputation of variants in unsequenced samples without resorting to statistical methods, as in studies of outbred cohorts. We focus on an isolated population cohort from the Pacific Island of Kosra...
BACKGROUND Loss of heterozygosity (LOH) and Copy number copy number variation (CNV) of DNA sequences is a common feature of cancer genomes, which is thought to be linked to tumorigenesis and progression. High-density singlenucleotide polymorphism (SNP) genotyping array are able to provided a genotype and copy number information with genome-wide coverage, which is suitable for the analysis of co...
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