نتایج جستجو برای: snp array
تعداد نتایج: 154958 فیلتر نتایج به سال:
Affymetrix SNP arrays are widely used for both genome-wide association and copy number variation (CNV) studies, both of which depend on accurate copy number estimation. However, depending on the method used to copy number estimation, distortions from the actual copy numbers can occur. Therefore, we demonstrate here several effects that can bias accurate copy number estimation, and we describe h...
During last years there has been a breakthrough in genetics and biotechnology. Present technology allows large scale association studies between genotypes and diseases. The most powerful methodology of association studies is the analyse of single nucleotide polymorphisms (SNPs). The estimated number of SNPs in the human genome is 10 million. Therefore, SNP markers provide practical fine-grain m...
1 From raw reads to trees: Whole genome SNP phylogenetics across the tree of 1 life 2 3 Sanaa A. Ahmed, Chien-Chi Lo, Po-E Li, Karen W. Davenport, and Patrick S. G. Chain 4 5 Biome Sciences, Bioscience Division, Los Alamos National Laboratory, MS-M888, Los 6 Alamos, NM 87545 7 Corresponding author: 8 Patrick S.G. Chain 9 Scientist IV 10 Los Alamos National Laboratory 11 MS-M888 12 Los Alamos, N...
BACKGROUND Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic methods are limited in resolution and dependent on highly skilled labour, while methods with higher resolution, based on molecular cytogenetics approaches such as matrix CGH, are not widely available. ...
Comprehensive analysis of the cancer genome has become a standard approach to identifying new disease loci, and ultimately will guide therapeutic decisions. A key technology in this effort, single nucleotide polymorphism arrays, has been applied in hematologic malignancies to detect deletions, amplifications, and loss of heterozygosity (LOH) at high resolution. An inherent challenge of such stu...
Comprehensive analysis of the cancer genome has become a standard approach to identifying new disease loci, and ultimately will guide therapeutic decisions. A key technology in this effort, single nucleotide polymorphism arrays, has been applied in hematologic malignancies to detect deletions, amplifications, and loss of heterozygosity (LOH) at high resolution. An inherent challenge of such stu...
High-throughput genotyping arrays continue to be an attractive, cost-effective alternative to sequencing based approaches. We have developed a new 50k Illumina Infinium iSelect genotyping array for barley, a cereal crop species of major international importance. The majority of SNPs on the array have been extracted from variants called in exome capture data of a wide range of European barley ge...
Background: This study aimed to compare the use of next-generation sequencing (NGS) and single-nucleotide polymorphism (SNP) array in preimplantation genetic testing for aneuploidy (PGT-A) same blastocyst. Methods: We performed a retrospective on 67 embryos (from 23 couples), where PGT-A was carried out. A trophectoderm (TE) biopsy blastocyst, 24-chromosomal ploidy status analyzed. Initially, 2...
Acute myeloid leukemia (AML) with t(8;21) and inv(16), together referred as core binding factor (CBF)-AML, are recognized as unique entities. Both rearrangements share a common pathophysiology, the disruption of the CBF, and a relatively good prognosis. Experiments have demonstrated that CBF rearrangements were insufficient to induce leukemia, implying the existence of cooperating events. To ex...
MOTIVATION A plethora of alignment tools have been created that are designed to best fit different types of alignment conditions. While some of these are made for aligning Illumina Sequence Analyzer reads, none of these are fully utilizing its probability (prb) output. In this article, we will introduce a new alignment approach (Slider) that reduces the alignment problem space by utilizing each...
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