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.
Not exact matches
Not only are the
alleles skewed between black and white study
samples but their
frequencies also line up with the groups» overall responses.
In a
sample with 26.9 % of CXCR4
alleles disrupted, NHEJ events were detected at a
frequency of 2.3 % (170/7531 reads) in an extragenic region on chromosome 12 and 0.8 % (84 / 10531) in ADAMTS17, a metalloprotease of unknown function [45].
Using large - scale empirical and simulated data sets, we found that the
sample sizes used in the HapMap project are sufficient to capture common variation, but that performance declines substantially for variants with minor
allele frequencies of < 5 %.
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.
Therefore, we developed THE REAL McCOIL, Turning HEterozygous SNP data into Robust Estimates of ALelle
frequency, via Markov chain Monte Carlo, and Complexity Of Infection using Likelihood, to incorporate polygenomic
samples and simultaneously estimate
allele frequency and COI.
An analysis of the geographical distribution of
allele frequencies showed weak evidence of variation in distribution of
alleles, with clusters representing a higher than expected number of
samples with the major
allele being identified for 5 SNPs.
For the Dutch and Danish
samples, only
allele frequency data was available.
The differences between the
samples are highest in low -
frequency alleles and decrease with increasing
allele frequency.
Frequency of the mutant MDR1
allele associated with ivermectin sensitivity in a
sample population of collies from the northwestern United States.
Samples from 733 privately owned pet MWHDs, 502 females and 191 males, were collected for the purpose of diagnostic genetic testing for canine Lafora disease to determine the genotype and
allele frequencies in the tested population.