Sentences with phrase «allele frequency»

Evolution the fact is defined as a change in allele frequency in a population over time.

We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1 % and found a recessive frameshift mutation in MYL4 that causes early - onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid - stimulating hormone levels when maternally inherited.

Adaptation in quantitative traits likely often occurs through subtle shifts in allele frequencies at many loci, a process called polygenic adaptation.

(b) In the mediation regression where both S allelic frequency and cultural value of individualism — collectivism were included as predictors of global depression prevalence across 12 nations, individualism — collectivism remained a reliable predictor (β = − 0.21, p < 0.05), and the effect of S allele frequency decreased significantly (from r (12) = − 0.51 to r (12) = − 0.03; Sobel test Z = − 1.92, p < 0.05).

Allele frequency shifts for FMR1 and MSN from O. c. algirus to O. c. cuniculus are abrupt and few introgressed alleles are found in the other subspecies territory.

HUU test A DNA test for the hyperuricosuria mutation is now available and may be used by breeders to decrease the mutant allele frequency in breeds that carry the mutation.

To identify signatures of geographically restricted natural selection, the authors searched for DNase I peaks containing variants with significant allele frequency differences between individuals of African, European, and Asian ancestry.

SNP calling, genotype calling, and sample allele frequency estimation from new - generation sequencing data Nielsen, R. T. Korneliussen, A. Albrechtsen, Y. Li et al. 2012.

Incredibly, when we plotted the estimated allele frequencies from deep Illumina sequencing of the pool to the known frequencies from individual 454 results, the correlation was extremely high (> 0.95, Pearson's).

Not so long ago, there was a hope in the research community that common genetic variation, i.e. variants present at minor allele frequencies > 5 % in human populations, might explain most or all of the heritability of common complex disease.

It also uses allele frequency data, but unlike Ho and He, it gives more weight to uncommon alleles.

Furthermore, chi - square test comparison for genotype distributions and allele frequencies did not reveal any significant difference among the three groups of subjects P > 0.05).

Finally, the FINDbase worldwide database for clinically relevant genomic variation allele frequencies continues to be updated with new functionalities and content, thanks to the joint efforts of the Genome Informatics Working Group.

They applied a strategy for seraching genes with multiple rare (minor allele frequency < 0.001) variants in cases but not in controls with a potentially damaging effect.

With the help of giant genomic data sets, scientists can now track these evolutionary shifts in allele frequencies over short timescales.

Inferring allele frequency trajectories from ancient DNA indicates that selection on a chicken gene coincided with changes in medieval husbandry practices.

Genotype and allele frequency analyses did not result in significant associations when the combined endurance versus sprint athletes were compared (Supplemental Table 1).

Pickrell, J. K. & Pritchard, J. K. Inference of population splits and mixtures from genome - wide allele frequency data.

Estimation of 2Nes from temporal allele frequency data Bollback, J. P., T. L. York, and R. Nielsen.

SNP calling, genotype calling, and sample allele frequency estimation from new - generation sequencing data.

I show that we can leverage trait - associated loci identified from genome - wide association studies to detect the coordinated shifts in allele frequency expected under polygenic adaptation.

A clustering analysis of mutant allele frequencies suggested that there were four clones (tumor subpopulations) in the primary tumor defined by distinct sets of mutations.

Some of the earliest studies of cancer genomes in AML noted that, within a single patient, there were subsets of mutations present at lower allele frequencies, suggesting that they're not present in all cells.

In tumor samples, where we frequently encounter variants with a very small allele frequency due to contamination with normal tissue, copy number variation, and tumor heterogeneity, high coverage is essential for accurate detection of these variants with high power.

Assuming that all mutations are heterozygous (which is likely), the observed allele frequencies suggest that shared mutations are present in virtually all tumor cells.

Thus, while the mere presence of a variant in dbSNP is a blunt tool for variant filtering, dbSNP's deep allele frequency data make it incredibly powerful for genetics studies: it can rule out variants that are too prevalent to be disease - causing, and prioritize ones that are rarely observed in human populations.

Through the examination of SNP allele frequencies in the Labrador Retriever family, we identified 2 chromosomes harboring CMS candidate genes that showed an inheritance pattern consistent with autosomal recessive transmission.

Among individuals with two divergent mitochondrial haplotypes (mt - haplotypes), the genome - wide analyses revealed significant differences in nuclear allele frequencies.

The other examined how allele frequencies can change within a lifetime.

Results of this study has shown that there is a significant inter-population variability, as far as pharmacogenomic biomarker allele frequency is concerned, which has a direct impact on the rationalization of drug use at a population level.

It follows from the last point above that the vast majority of common human genetic variation, i.e. SNPs with derived allele frequencies of at least 5 %, is neutral or nearly neutral with respect to fitness.

As the Pf3k project evolves, there will be the option to include even more data, for example allele frequencies and neighbour - joining trees, as we've done in the Panoptes - based Ag1000G application.»

Such high redundancy of coverage enabled us to accurately compute allele frequency, and thereby, the fraction of tumor cells harboring each mutation.

Deep sequencing validation revealed some interesting allele frequency patterns for validated mutations: