but could lose power if causal variants are discarded. Future studies could focus on integrating the methods we propose with more sophisticated ways to account for confounding that allow for larger allele frequency differences between individuals
Allelic frequency has an inverse relationship with phenotypic variation, and, in particular, on eQTLs susceptibility to environmental modifications. First, an inverse relationship between effect sizes on transcript abundances and lead eSNP minor allele frequencies (MAFs) is observed in our cohort (Supplem...
minor allele frequency NTDs: neural tube defects PRC2: polycomb repressive complexe 2 PPI: protein–protein interaction QC: quality of control RA: retinoic acid RNA-seq: RNA sequencing RPKM: reads per kilobase transcriptome per million mapped reads ...
However, D’ is known to be more influenced by allelic frequency variation than the r2 estimate [35]. As such, r2 is more useful in predicting the power of association mapping. The LD estimates presented in this study are based on 995 oysters which include an additional 660 oysters to ...
Genotype and allele frequency differences between the groups were analyzed using the chi-square test, while the relationship between polymorphisms and negative symptoms was examined using the ANOVA test. Results To be confirmed Discussion To be confirmedEuropean NeuropsychopharmacologyDika AsrulElmeida Ef...
The allele frequency of the G→T mutation of COL1A1 gene (collagen type I α 1 gene, GenBank accession n. AF017178) was analyzed by a new ARMS-PCR method in 240 osteoporotic subjects bearing a femoral neck fracture. The method is based on the amplification refractory mutation system-polym...
This indicates that the entire region of CBF2 was favored by positive selection, and a beneficial allele has been fixed in the population. However, a significant negative D value can also be the result of deriving low-frequency detrimental alleles or a bottleneck effect. The signature of ...
The second class of approaches is that of site frequency spectra (SFS), which use histograms of allele frequencies to estimate the magnitude of fitness effects in pre-defined sites in comparison to a neutral class. In doing so, this approach distinguishes sites subject to selection, allowing ...
To lend further credibility to our finding, we explored the total G × E contribution once BMI is adjusted for previously reported G-alcohol intake frequency interaction in the UK Biobank14. Our method (re-)estimated the global uncorrected G × E contribution (\({\hat{{\gamma }}}...
a, Frequency distribution of Mendelian randomization t-statistic, for 296 cis–trans-eQTLs and matched background variants. b, CRE enrichment (y-axis) of trans-eVariants (10% FDR), cis-eVariants (10% FDR, to match trans-eVariants), and top most significant cis-eVariants. Box plots show...