Snp functional study

What is a functional genetic polymorphism? Defining ...

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For example, if the SNP is not located in a region of predicted or known functional interest, “function” can only be inferred from the gene location. In some cases (0B), the polymorphism may lie in a region of functional interest, such as a coding region or promoter region.

What is a functional genetic polymorphism? Defining ...

Functional genomics - Wikipedia

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4/2/2019 · Single nucleotide polymorphisms, frequently called SNPs (pronounced “snips”), are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA.

Functional genomics - Wikipedia

What are single nucleotide polymorphisms (SNPs ...

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11/5/2007 · The Functional Single Nucleotide Polymorphism (F-SNP) database integrates information obtained from 16 bioinformatics tools and databases about the functional effects of SNPs. These effects are predicted and indicated at the splicing, transcriptional, translational and post-translational level. As ...

What are single nucleotide polymorphisms (SNPs ...

F-SNP: computationally predicted functional SNPs for ...

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SNP selection for candidate genes based on Genome Wide Association Study (GWAS) results, functional SNP prediction and Linkage Disequilibrium (LD) information. GWAS Functional SNP Selection (GenomePipe) Functional SNP selection from SNPs that are in high LD with GWAS SNPs. GWAS SNP Selection in Linkage Loci (LinkagePipe)

F-SNP: computationally predicted functional SNPs for ...

SNPinfo Web Server

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A single-nucleotide polymorphism, often abbreviated to SNP (/ s n ɪ p /; plural / s n ɪ p s /), is a substitution of a single nucleotide that occurs at a specific position in the genome, where each variation is present to some appreciable degree within a population (e.g. > 1%).

SNPinfo Web Server

Single-nucleotide polymorphism - Wikipedia

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The single nucleotide polymorphism (SNP) rs13438494 in intron 24 of PCLO was significantly associated with bipolar disorder in a meta-analysis of genome-wide association studies. In this study, we performed functional minigene analysis and bioinformatics prediction of splicing regulatory sequences to characterize the deep intronic SNP rs13438494.

Single-nucleotide polymorphism - Wikipedia

Functional Analysis of Deep Intronic SNP rs13438494 in ...

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6/1/2010 · Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes ... This is, from a biological point of view, a more interesting category of intronic SNP to study, since the mechanisms by which these variants exert their effects on the splicing phenotype are often unclear and may be quite subtle. ... wary of the existence ...

Functional Analysis of Deep Intronic SNP rs13438494 in ...

Functional intronic polymorphisms: Buried treasure ...

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5/5/2009 · These LD tag SNPs capture other unexamined SNPs in and around a gene, including SNPs with unknown or unpredicted functional consequences. The web utility options allow an investigator to choose prediction methods and assign weights to those predictions for study-specific SNP selection. Functional sequence prediction is a rapidly developing field.

Functional intronic polymorphisms: Buried treasure ...

SNPinfo: integrating GWAS and candidate gene information ...

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1/29/2018 · Methods. In this study, we developed an integrative functional genomics framework that maps 215,107 significant single nucleotide polymorphism (SNP) traits generated from the PheWAS Catalog and 28,870 genome-wide significant SNP traits collected from the GWAS Catalog into a global human genome regulatory map via incorporating various functional annotation data, including transcription …

SNPinfo: integrating GWAS and candidate gene information ...

F-SNP: computationally predicted functional SNPs for ...

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3/13/2006 · Using high-throughput SNP technologies to study cancer. ... 2005) can be used to estimate the likelihood that a particular nonsynonymous coding SNP is causing a functional impact on the protein.

F-SNP: computationally predicted functional SNPs for ...

An integrative functional genomics framework for effective ...

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SNP are likely to have differential effects on func­ tion. Users can assign weights for different func­ tional categories of SNPs to further tailor SNP selection. The program accounts for LD structure of different populations so that a GWAS study from one or more other ethnic groups. Finally, we provide

An integrative functional genomics framework for effective ...

Using high-throughput SNP technologies to study cancer ...

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12/10/2018 · Here, the authors carry out a genome-wide association study using UK BioBank data, suggesting that in combination with pigmentation genes, variants with …

Using high-throughput SNP technologies to study cancer ...

SNPinfo: integrating GWAS and candidate gene information ...

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However, further in-depth functional analysis will be needed to identify the potential regulator genes and the functional SNP associated with embryo production. Therefore, this study provided a list of potential positional candidate genes harboring or near SNP related …

SNPinfo: integrating GWAS and candidate gene information ...

Genome-wide study of hair colour in UK Biobank explains ...

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mous SNP G2677A/T. 6,7 MDR1 SNPs and their functional implications C3435T SNP C3435T SNP (rs1045642), the most widely inves-tigated SNP of the MDR1 gene, is located in exon 26 and represents a synonymous SNP with no effect in amino acid change at position 1145 (Ile) in the se-cond ATP binding domain.5 The polymorphic allele

Genome-wide study of hair colour in UK Biobank explains ...

Genome-wide association study and in silico functional ...

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The aim of this study was to study the functional role of one polymorphism in vitro. We cloned the proximal promoter region of SOST gene, containing different alleles at the rs851054 SNP, in luciferase reporter vectors and transfected them into the cell lines HEK-293T, SAOS-2 and HOS-TE85.

Genome-wide association study and in silico functional ...

MDR1 (ABCB1) polymorphisms: functional effects and ...

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8/25/2012 · Single nucleotide polymorphism (SNP) validation and large-scale genotyping are required to maximize the use of DNA sequence variation and determine the functional relevance of candidate genes for complex stress tolerance traits through genetic association in rice. We used the bead array platform-based Illumina GoldenGate assay to validate and genotype SNPs in a select set of stress-responsive ...

MDR1 (ABCB1) polymorphisms: functional effects and ...

Functional study of promoter gene polymorphisms of ...

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[PMID 17825092] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. [PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

Functional study of promoter gene polymorphisms of ...

SNPs in stress-responsive rice genes: validation ...

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In this study, we selected three functional SNP; two were located in the intron region and the other one in the 3′ region. The minor allele frequency of the three SNP was >0.1. Previous data have shown that SNP1 (rs2069718), SNP2 (rs2193049) and SNP3 (rs1861494) are associated with tuberculosis . Our results do not agree with previous studies ...

SNPs in stress-responsive rice genes: validation ...

rs4880 - SNPedia

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11 Thus, there is a need for a case-control study of functional SNP of the LTA gene in patients with EH. The aims of the present case-control study were to investigate the relationships between EH and three SNP in the human LTA gene in Japanese individuals and to assess the association between EH and haplotypes of the LTA gene. Methods Subjects

rs4880 - SNPedia

Analysis of Functional SNP in Ifng/Ifngr1 in Chinese Han ...

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Schizophrenia Regulatory Mechanisms Revealed by Risk SNP Functional Analysis. ... This webinar will review a recent study that applied whole-genome sequencing and optical genome mapping to identify a large number of previously undetected somatic structural variants in leukemia samples.

Analysis of Functional SNP in Ifng/Ifngr1 in Chinese Han ...

An association study in essential hypertension using ...

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A single-nucleotide polymorphism of miR-146a and psoriasis: an association and functional study Weigang Zhang #, Xiuli Yi #, Sen Guo #, Qiong Shi, Chao Wei, Xia Li, …

An association study in essential hypertension using ...
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