Filtering SNPs and Primary Candidate Gene Analysis
Identification and in silico analysis of functional SNPs of the BRCA1 gene
... these SNPs. It is still a major challenge to identify the functional SNPs in a disease-related ...BRCA1 gene using computational methods. Of the total 477 SNPs, 65 were found to be ...
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Analysis of Human Sarcospan as a Candidate Gene for CFEOM1
... A sarcospan null mouse has recently been generated and appears to display a normal phenotype [22]. This does not, however, rule out the possibility of sarcospan play- ing a primary role in a muscle disorder. There ...
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In Silico Analysis of Single Nucleotide Polymorphisms (SNPs) in Human MPL Gene
... MPL gene has a vital role in human body and it is co- expressed with 16 genes and shared domain with 10 ...MPL gene was investigated in NCBI database ...synonymous SNPs were analyzed by SIFT ...
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Candidate Gene Sequencing of SLC11A2 and TMPRSS6 in a Family with Severe Anaemia: Common SNPs, Rare Haplotypes, No Causative Mutation
... common SNPs, but no new mutation. We then genotyped these seven SNPs in the population-based SAPHIR study (n = 1,726) and performed genetic association analysis on iron and ferritin ...two ...
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Global analysis of SNPs, proteins and protein-protein interactions: approaches for the prioritisation of candidate disease genes.
... interactome analysis of a large dataset of manually curated cvd and cancer implicated proteins, the data showed that these disease implicated pro- teins tend to act through a small number of large, complex ...
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Computational Analysis of Deleterious Single Nucleotide Polymorphisms (SNPs) in Human CALR Gene
... Recently, somatic frameshift mutations in CALR gene were detected in essential thrombocythemia and the primary myelofibrosis lacking JAK2 or MPL [19, 20]. These CRT mutations included 52 bp deletion and 5 ...
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Candidate gene analysis in a case of congenital absence of the endometrium
... of primary amenorrhea and ...karyotype analysis were ...HOXA gene family was performed, but no variants in the coding sequence of these genes were ...for primary amenorrhea, and ...
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IN SILICO ANALYSIS OF SNPs FROM cAMP GEFII GENE ASSOCIATED WITH POLYCYSTIC OVARIAN SYNDROME
... the gene are becoming more important for single nucleotide polymorphism to understand the molecular basis of genetic ...the candidate gene which is responsible for causing genetic PCOS was ...this ...
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Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders
... 45 SNPs in GABRB3 and Asperger syndrome; they found significant association of three SNPs with Asperger syndrome and multiple related endophenotypes of ASD ...
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Thiopurine pharmacogenomics: association of SNPs with clinical response and functional validation of candidate genes
... association analysis The statistical methods for LCL analysis, including adjusting for ethnicity, have been previously described ...after gene knockdown, were fitted using GraphPad Prism Software ...
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1. In silico analysis of single nucleotide polymorphisms (snps) in human nlrp7 gene association with rhms
... 3. RESULTS AND DISCUSSION To determine the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs), which might be involved in inducing disease associated phenomena, is now among the most important field of ...
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IN SILICO ANALYSIS OF FUNCTIONAL SNPs OF ALOX12 GENE AND IDENTIFICATION OF PHARMACOLOGICALLY SIGNIFICANT FLAVONOIDS AS LIPOXYGENASE INHIBITORS
... silico analysis was performed to check the parameters such as the primary and secondary structure analysis of the protein ...3D3L. Primary analysis involved the calculation of ...
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A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis
... sequence analysis, and pattern recognition algo- rithms to predict a set of genes that credibly relate to a specific disease, X-Linked Mental ...The analysis performed, while not entirely novel was ...
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Genome-wide gene by lead exposure interaction analysis identifies UNC5D as a candidate gene for neurodevelopment
... We previously performed next-generation RNA sequen- cing on hNSCs to determine the primary transcriptional response to Pb in these cells. hNSCs differentiated from the NIH-approved embryonic stem cell line H9 were ...
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Category fluency, latent semantic analysis and schizophrenia: a candidate gene approach
... 3 SNPs and traditional measures of verbal learning and recall: the CVLT 15 correct, the CVLT long delay free recall correct, and the WMS- R logical (verbal learning and recall) memory 1 (immediate recall) and 2 ...
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Candidate gene analysis for loci affecting sperm quality and fertility of boar
... The process of SSCP involves PCR amplification of the fragment of interest, denaturation of the double stranded PCR product with heat and formamide, and electrophoresis on a non-denaturing polyacrylamide gel. During ...
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RHOXF2 gene, a new candidate gene for spermatogenesis failure
... RHOXF2 SNPs did not appear to pre- dispose their bearers to ...An analysis of RHOXF2 and RHOXF2B expression patterns would also be very interesting but would require us to be distinguish between the two ...
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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation
... Versatile Gene- based Association Study (VEGAS) [38] and PLINK set [37] methods to examine whether test statistics for a group of related SNPs or genes have consistent yet moderate deviation from ...The ...
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Candidate gene effects on beef quality
... up all the proteins the body needs. Mutations that alter the protein composition by an amino acid replacement may affect the structure of the vital three- dimensional folding, and thereby affect the protein function. If ...
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In Silico Analysis of Non Synonymous SNPs in DHCR7 Gene
... DHCR7 gene (7-dehydrocholesterol reductase) provides the necessary instruction for synthesis of the enzyme 7-dehydrocholesterol reductase which is needed for cholesterol ...this gene is Smith–Lemli–Opitz ...
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