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Genotype frequency
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To determine the genotype frequency of the STAT6 rs324015 polymorphism and its association with cancer risk in hepatitis B virus (HBV) - related hepatocellular carcinoma (HCC) patients.
10p
vijaychest
16-05-2024
5
1
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Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phase 3 (1KGP3).
10p
vibransone
28-03-2024
2
2
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For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta-synthase (CBS) gene, most of which are rare. With early detection, existing therapies are highly effective.
18p
vibransone
28-03-2024
5
2
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The clinical utility of molecular profiling of tumor tissue to guide treatment of patients with advanced solid tumors is unknown. Our objectives were to evaluate the frequency of genomic alterations, clinical “actionability” of somatic variants, enrollment in mutation-targeted or other clinical trials, and outcome of molecular profiling for advanced solid tumor patients at the Princess Margaret Cancer Centre (PM).
12p
vioraclene
31-03-2024
5
2
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Many carcinomas have recurrent chromosomal aneuploidies specific to the tissue of tumor origin. The reason for this specificity is not completely understood. Methods: In this study, we looked at the frequency of chromosomal arm gains and losses in different cancer types from the The Cancer Genome Atlas (TCGA) and compared them to the mean gene expression of each chromosome arm in corresponding normal tissues of origin from the Genotype-Tissue Expression (GTEx) database, in addition to the distribution of tissue-specific oncogenes and tumor suppressors on different chromosome arms.
16p
vibransone
28-03-2024
2
2
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Tamoxifen is one of the fundamental pillars of adjuvant endocrine therapy for hormone receptor-positive breast cancer; however, 30–50% of patients receiving tamoxifen experience tumor relapse. This study aimed at determining the frequencies of the most clinically relevant CYP2D6 alleles and evaluating their impact on the respon‑siveness to tamoxifen in a cohort of Syrian breast cancer patients.
11p
vialfrednobel
23-12-2023
6
3
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This study aimed to estimate the allelic and genotypic frequencies of single nucleotide polymorphisms (SNPs) of MC4R (melanocortin-4- receptor gene) and PIT1 (pituitary specific transcription factor-1) genes, and their additive dominance genetic effects on production and carcass traits in Duroc pigs.
7p
viengels
25-08-2023
9
2
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To determine the genotype frequency of rs1059513 STAT6 polymorphism and its correlation with clinical, paraclinical characteristics, and cancer risk in Hepatitis B Surface Antigen positive (HBsAg (+)) hepatocellular carcinoma (HCC) patients.
13p
viwolverine
07-07-2023
9
1
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HLA (Human Leukocyte Antigen) gene is located on chromosome 6’s short arm, including several loci. HLA genotyping is necessary for transplantation, especially in hematopoietic stem cell transplantation. A crosssectional study to determine the frequency of HLA-A, HLA-B, and HLA-DRB1 alleles of 122 patients admitted to the National Children’s Hospital for Hematopoietic stem cell transplantation from the year between 2010 and 2020.
8p
vihawkeye
26-05-2023
7
4
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The advent of next-generation sequencing has brought about an explosion of single nucleotide polymorphism (SNP) data in non-model organisms; however, profiling these SNPs across multiple natural populations still requires substantial time and resources.
13p
vinarcissa
21-03-2023
4
1
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Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population
Several pathogenesis and genetic factors influence predisposition to antituberculosis drug-induced hepatotoxicity (ATDH) especially for isoniazid (INH). However, the major susceptibility genes for ATDH are N-acetyltransferase 2 (NAT2) and cytochrome P450 2E1 (CYP2E1).
6p
vinarcissa
21-03-2023
6
1
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Anastrepha fraterculus Wiedemann is a horticultural pest which causes significant economic losses in the fruit-producing areas of the American continent and limits the access of products to international markets. The use of environmentally friendly control strategies against this pest is constrained due to the limited knowledge of its population structure.
8p
vinarcissa
21-03-2023
3
1
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SLCO1B1 polymorphisms are relevant in statin pharmacokinetics. Aim of this study was to investigate the genetic variability and haplotype profile of SLCO1B1 polymorphisms in Roma and Hungarian populations. Genotypes of 470 Roma and 442 Hungarian subjects for c.388A > G, c.521T > C and c.1498-1331T > C polymorphisms were determined by PCR-RFLP assay. Using these SNPs eight different haplotypes could be differentiated.
7p
vinarcissa
21-03-2023
7
1
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Genetic variance that is not captured by single nucleotide polymorphisms (SNPs) is due to imperfect linkage disequilibrium (LD) between SNPs and quantitative trait loci (QTLs), and the extent of LD between SNPs and QTLs depends on different minor allele frequencies (MAF) between them.
14p
vinarcissa
21-03-2023
4
1
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Phasing quality assessment in a brown layer population through family- and population-based software
Haplotype data contains more information than genotype data and provides possibilities such as imputing low frequency variants, inferring points of recombination, detecting recurrent mutations, mapping linkage disequilibrium (LD), studying selection signatures, estimating IBD probabilities, etc.
11p
vihagrid
30-01-2023
6
3
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Modern breeding in the poultry industry mainly aims to produce high-performance poultry lines and breeds in two main directions of productivity, meat and eggs. To understand more about the productive potential of lowly selected Chinese native chicken populations, we selected 14 representative SNP markers strongly associated with growth traits or carcass traits and 14 SNP markers strongly associated with egg laying traits through previous reports.
10p
vihagrid
30-01-2023
6
3
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The aim of this study was to obtain quantitative data about the frequency, genotypic characterization and antibiotic resistance profiling of Salmonella agents in chicken flocks located in eastern Turkey.
8p
vigandhi
23-02-2022
12
1
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The study included 114 postmenopausal osteoporosis patients. BMD was measured in the lumbar spine and the femoral neck. Genetic analysis was performed using Sanger sequencing. Genotypes data for 263 female European population group were obtained from the 1000Genomes database.
7p
lazzaro
30-12-2021
8
0
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Fluoropyrimidine plus platinum chemotherapy remains the standard first line treatment for gastric cancer (GC). Guidelines exist for the clinical interpretation of four DPYD genotypes related to severe fluoropyrimidine toxicity within European populations. However, the frequency of these single nucleotide polymorphisms (SNPs) in the Latin American population is low (< 0.7%).
18p
vimahuateng
26-11-2021
6
1
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The aim of this study was to analyze the frequencies of genotypes and alleles of Single Nucleotide Polymorphism (SNP) LEP-R c.668A>G (p.Gln223Arg, rs1137101) of leptin receptor gene and to assess the influence this DNA marker has on endometrial cancer (EC) with respect to total body fat content.
6p
vimahuateng
26-11-2021
13
1
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