... and that the error rate is more severe for low minor allele frequency SNPs than for high minor allele frequency SNPs. In order ... We used real data to demonstrate and measure reference allele preference in DNAseq data and implemented this bias in our ... In this study, we designed a rigorous simulation model to test the practicability of estimating allele frequency from pooled ... defined as error rate divided by targeted allele frequency) ... be the true allele frequency in the pool. Under the ideal ...

... the proportion of alleles having a given number of copies at a specified time point. We derive the variance of the frequency ... We consider an infinite-allele Markov branching process (IAMBP). Our main focus is the frequency spectrum of this process, that ... of alleles at time , we have Let , . If we define and as the limiting mean frequency spectrum, that is, the expected proportion ... individuals carrying this allele units later. Then For each , is independent of and , as well as , and it can be seen that , , ...

Non-MHC Risk Alleles in Rheumatoid Arthritis and in the Syntenic Chromosome Regions of Corresponding Animal Models. Timea ...

... and t allele (,span class=inline_break,,svg xmlns:xlink=http://www.w3.org/1999/xlink xmlns=http://www.w3.org/2000/svg ... and f allele (,span class=inline_break,,svg xmlns:xlink=http://www.w3.org/1999/xlink xmlns=http://www.w3.org/2000/svg ... and f allele (. ; 95% ; ) were found to be associated with the risk of CIN2+. TaqI Tt genotype (. ; 95% ; ), tt genotype (. ; ... Finally, comparing the t allele to the T allele revealed that the t allele is a CIN2+ susceptibility gene (. ; 95% ; ). The ...

Compared with drug responders, the authors reported an increase in T allele in the drug-resistant group (. , , ) [35]. A higher ... The C allele was taken as reference. Allelic frequencies differ significantly in the case and control groups with T allele ... Both groups have a higher percentage of C allele compared to T allele. The odds ratio for developing drug resistance in ... 27] found a greater prevalence of the T allele in patients with generalized epilepsy (. ) and an increase in TT genotype ...

D5018). Arrows indicate methylated allele. (b) RUNX3 promoter methylation frequency in different astrocytoma grade. GBM ... MSP primers for methylated allele were 5-TTACGAGGGGCGGTCGTACGCGGG-3 (sense) and 5-AAAACGACCGACGCGAACGCCTCC-3 (antisense) ... and for unmethylated allele: 5-TTATGAGGGGTGGTTGTATGTGGG-3 (sense) and 5-AAAACAACCAACACAAACACCTCC-3 (antisense). 10 pmol of ...

... the allele was created by two rounds of PCR. The first round of PCR was carried out to generate two fragments flanking the ...

i,Conclusion,/i,. APOE alleles ,i,ε,/i,2, ,i,ε,/i,4, and genotypes ,i,ε,/i,2/,i,ε,/i,3 and ,i,ε,/ ... The frequency of ,i,ε,/i,3 allele and ,i,ε,/i,3/,i,ε,/i,3 genotype was significantly lower in patients. Other ... i,4/,i,ε,/i,3 are associated with psoriasis and can be a risk factor while allele ,i,ε,/i,3 and genotype ,i,ε ... i,Results,/i,. The frequencies of alleles ,i,ε,/i,2, ,i,ε,/i,4, and genotypes ,i,ε,/i,3/,i,ε,/i,4 and , ...

... of F1534C mutation allele frequencies, along with 15%, 12%, and 6% of V1016G mutation allele frequencies, ... The mutation allele frequencies of S989 in Colombo, Gampaha, and Kandy districts were 9.5%, 8.5%, and 4.5% ... The abundance of Q allele frequency in ,i,Ae. aegypti,/i, mosquitoes was relatively higher for all the three mutations in ... The frequencies of the resistant and susceptible kdr alleles were determined by using the Hardy–Weinberg equilibrium. ,i ...

in the subjects without the Arg allele was significantly higher than that in those with the Arg allele, though there was no ... in subjects with the Arg allele was comparable to that without the Arg allele. There was, however, difference in the energy ... Healthy young Japanese males with the Arg64 allele should perform exercise for longer periods than those with the Trp64 allele ... The allele frequency of the Arg64 was 20.3%. The subjects were separated into two groups, Trp/Trp and Trp/Arg + Arg/Arg, to ...

Moreover, there was a significant association between the rs145204276 ,i,del,/i, allele and elevated expression of GAS5 in IS ... In contrast, the frequency of the allele related to rs55829688 was not statistically correlated with IS in all analysis. Our ... When study participants were stratified according to environmental factors, we found that the rs145204276 ,i,del,/i, allele was ... Additional stratification conforming to IS subtypes exhibited that individuals carrying the rs145204276 ,i,del,/i, allele ...

The G-allele binds a transcription factor, Sp-1, better than the T-allele [42]. Ten base pairs away from this Sp-1 site is an ... The Pro-allele is the ancestral form and Africans near the equator have very high levels of the Pro-allele. As populations move ... SNP309 in the MDM2 gene comes in two forms, a G-allele and a T-allele. The first intron of the MDM2 gene contains sites for ... For example, the observation that the G-allele (the at-risk allele) of SNP309 is associated with an earlier age of onset in a ...

In the presence of the T allele, circulating IGF2R levels were significantly lower ,svg xmlns:xlink=http://www.w3.org/1999/ ... The C allele was more commonly found in diabetes subjects, with a significant difference ,svg xmlns:xlink=http://www.w3.org/ ... The C allele was more commonly found in diabetes subjects, with a significant difference . In the presence of the T allele, ... K. Lv, Y. Guo, Y. Zhang, K. Wang, Y. Jia, and S. Sun, "Allele-specific targeting of hsa-miR-657 to human IGF2R creates a ...

Two hairloop probes were designed for each mutation-one for the normal allele and one for the mutant allele-giving a total of ... The reported values for (S-B) of wild-type allele probe (S-B) of mutant allele probe, and consequently discrimination ratios ... Other multiplexing methods such as long-range PCR [4, 5] or the use of universal primers [1, 2], based on the use of allele- ... Probe or target bearing the mutant allele of the V95M mutation.. Acknowledgment. The authors would like to thank the Fondation ...

... compares major allele homozygotes versus heterozygotes versus minor allele homozygotes. Dominant model: major allele homozygous ... UTR of RPA1, which is carrying C allele markedly associated with poor DCR and prognosis compared to those with the T allele in ... Moreover, OS time in lung cancer patients who are carrying rs1776148 A variant allele are longer than patients with G allele. ... Our results revealed that patients who are carrying rs5030740 C variant allele have a better PFS compared with T allele. ...

Dendrogram of seven allele sequence types from 50 E. coli isolates from minks. ST11 is included as the reference. The three ... we found that 17 STs of mink origin differed from the human STs by one allele and formed 9 clones (Figure 3). Four STs (10, 46 ... If the STs exist and there is an allele difference among the ST types, the diagram also allows verification of the grouping of ... enterobase.warwick.ac.uk/species/ecoli/allele_st_search), and the sequence type (ST) of each strain was determined. ...

Genomic incompleteness greatly increases cancer susceptibility; for example, mice carrying the MCM4 Chaos3 subtype allele ...

Gene polymorphism refers to the coexistence of two or more genotypes or alleles in a population, mainly including single ... For rs3213173 and rs3213176 loci, there were no significant differences in genotype or allele distribution. The detailed ... Comparison of genotype and allele frequency between the ovarian cancer group and the control group ...

... having haplotype allele GAAGAGGC in the Nrf2 gene delayed the need for cataract surgery four more years [121]. Because studies ...

The I allele of ACE gene and +1166 C allele of AT1R gene are reportedly associated with hypertension [10]. However, these ... interaction with ACE gene I allele," Hypertension, vol. 41, no. 1, pp. 9-15, 2003. ...

Our team has shown that the long promoter alleles (with more GT repeats) result in the lower HMOX1 expression [25]. Endothelial ...

In the targeted allele (Pggt1bflox), loxP sites flank exon 3, which is critical for enzymatic activity. Homologous recombinant ... creating a frameshift mutation and a null allele. The locations of primers for genotyping are indicated. (b) The plasmid map of ...

When somebody inherits a germline mutation in one allele, a second somatic mutation can occur, allowing for the initiation of ...

For the methylated and unmethylated alleles, methylation-specific PCR (MSP) primers were designed by Wuhan Service ...

ApoE is polymorphic in nature and three common alleles, that is, ε4, ε3, and ε2 code for three major isoforms, that is, ApoE4, ... P. Singh, M. Singh, U. Gerdes, and S. S. Mastana, "Apolipoprotein E polymorphism in India: high APOE*E3 allele frequency in ... these allele frequencies observed were 0.031-0.094 for ε2, 0.803-0.968 for ε3, and 0.000-0.133 for ε4 [37]. Frequency of ApoE ε ... ε4 allele were considered to be at risk to develop premature myocardial infarction, independent of other conventional risk ...

The test consists of three allele-specific PCR reactions that enable identification of BRAF wild-type, BRAF V600K/R/M (all c. ... The Idylla BRAF mutation assay performed on the Idylla molecular diagnostics platform is an allele-specific real-time PCR-based ... allele frequency, which does not work well with a low number and/or scattered distribution of neoplastic cells [44]. Although ... BRAF V600 mutation in a background of wild-type allele. A quantification cycle (Cq) value is calculated by Idylla™ software for ...

showed that the presence (allele bb) or absence (allele BB) of a restriction fragment (BsmI) may determine muscle strength; ...

... homozygosity of the t allele was found to be significantly increased in subjects with tuberculoid leprosy (. , ; ). In contrast ... allele was associated with clinical resistance to the disease [78]. These findings are partially corroborated by a more recent ... and Taq1 alleles could also predict BMD [88]. In order to minimize potential confounding factors, the authors targeted a sample ... BB homozygotes have identical alleles with absent restriction sites, which negatively impact the ability to synthesize the full ...

Notably, our updated analysis with more data exactly showed a significant relevance of T allele and A allele with a worse ORR ... Figure 2(a)). For the ethnicity-specific subgroup analysis, the T allele was found to be correlated with a decreased ORR in ... Figure 3(b)). After excluding the only one study for Caucasians, A allele was observed to be associated with a worse survival ... However, we also observed a slight trend that the T allele may correlate with a poorer PFS, as the HRs in various comparisons ...

The dominant alleles combine and interact positively so as to produce a genotype with high combining ability in the F1 results ...