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Allelic imbalance
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We evaluated the performance of single-nucleotide polymorphism (SNP) genotyping arrays OncoScan (Thermo Fisher Scientific, San Diego, CA) and Infinium CytoSNP-850K (CytoSNP; Illumina, Waltham, MA) for assessing homologous recombination deficiency (HRD) genomic instability.
9p
vileonardodavinci
23-12-2023
4
3
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Multiple sclerosis is a chronic inflammatory, demyelinating disease of the central nervous system. Recent genome-wide studies have revealed more than 110 single nucleotide polymorphisms as associated with susceptibility to multiple sclerosis, but their functional contribution to disease development is mostly unknown.
9p
vinarcissa
21-03-2023
3
1
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The expression of genes involved in regulating adipogenesis and lipid metabolism may affect economically important fatness traits in pigs. Allele-specific expression (ASE) reflects imbalance between allelic transcript levels and can be used to identify underlying cis-regulatory elements.
9p
vihagrid
30-01-2023
6
3
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The human CGGBP1 binds to GC-rich regions and interspersed repeats, maintains homeostasis of stochastic cytosine methylation and determines DNA-binding of CTCF. Interdependence between regulation of cytosine methylation and CTCF occupancy by CGGBP1 remains unknown.
21p
vihagrid
30-01-2023
7
3
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Allele-specific measurements of transcription factor binding from ChIP-seq data are key to dissecting the allelic effects of non-coding variants and their contribution to phenotypic diversity. However, most methods of detecting an allelic imbalance assume diploid genomes.
17p
vialfrednobel
29-01-2022
10
0
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In mammals, sex chromosomes pose an inherent imbalance of gene expression between sexes. In each female somatic cell, random inactivation of one of the X-chromosomes restores this balance. While most genes from the inactivated X-chromosome are silenced, 15–25% are known to escape X-inactivation (termed escapees). The expression levels of these genes are attributed to sex-dependent phenotypic variability.
17p
visilicon2711
20-08-2021
9
1
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Allelic specific expression (ASE) increases our understanding of the genetic control of gene expression and its links to phenotypic variation. ASE testing is implemented through binomial or beta-binomial tests of sequence read counts of alternative alleles at a cSNP of interest in heterozygous individuals.
12p
vikentucky2711
26-11-2020
18
0
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One aspect in which RNA sequencing is more valuable than microarray-based methods is the ability to examine the allelic imbalance of the expression of a gene. This process is often a complex task that entails quality control, alignment, and the counting of reads over heterozygous single-nucleotide polymorphisms.
6p
vikentucky2711
24-11-2020
13
1
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High-throughput sequencing experiments, which can determine allele origins, have been used to assess genome-wide allele-specific expression. Despite the amount of data generated from high-throughput experiments, statistical methods are often too simplistic to understand the complexity of gene expression.
13p
vicolorado2711
23-10-2020
11
1
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In maize, zeins are the main protein components of seed stores. It is the major determinants of nutritional imbalance when utilized as the sole food source. Zeins having four subfamilies (α, β, γ, and δ). Among these, α zeins are the major prolamin subunits in maize. Opaque-2 (o2) is a natural recessive mutation that is exploited for breeding varieties. However, it possessed some adverse pleiotropic effect so, the combination ofopaque-2 allele with its genetic modifiers composed to breed QPM genotypes that having a hard kernel with a high content of lysine and tryptophan.
10p
nguaconbaynhay1
04-12-2019
18
0
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays...
0p
thulanh20
12-11-2011
49
1
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