Sentence examples for detected imbalances from inspiring English sources

AA-ALIGNER also attempts to correct other biases that can influence imbalance detection, such as incorrect heterozygous site annotations in reference genome sequences and incorrectly detected imbalances due to differences in mappability between reads containing each of the alleles or due to PCR duplications introduced during sequencing [ 25].

They proposed that the array detected imbalances accounting for the mental retardation and other phenotypic abnormalities observed.

Moreover, most of the detected imbalances (70.6%) were subtelomeric defects (Tables 2 5), which are known to be difficult to characterize by G-banding due to their location in the distal G-negative staining regions of the chromosomes.

Most of the detected imbalances have been repeatedly reported in non-bilharzial bladder carcinomas, suggesting that the cytogenetic profiles of chemical- and bilharzia-induced carcinomas are largely similar.

Interestingly, we found that when simply including common variant alleles (no available genotypes), we detected imbalances with similar sensitivity (>73 %) and precision (>75 %) as with partial genotype information (Table  2).

In the TYLCV data set, however, we detected imbalances only between G → T : C → A (46 30 mutations; p = 0.051) and A → G : T → C (8 22 mutations; p = 0.02) mutations (Table  1).

As a proof-of-concept, we analyzed allele-specific expression in reciprocal indica × japonica F1 hybrids and detected imbalanced expression at approximately one third of the SNPs.

EMSA results for sites with reads mapping but no detected imbalance.

Thus, AA-ALIGNER outputs three sets of detected imbalance sites: i) a complete set of all imbalances identified; ii) imbalances at known or common heterozygous variants (higher confidence); and iii) imbalances at predicted rare variants (lower confidence).

We incorrectly detected imbalance at 13 sites using partial genotypes and 4 sites using common variants because an increase or decrease in aligned reads containing one allele now caused the site to pass the significance threshold for imbalance.

Presence in dbSNP is not a requirement, thus in theory we can detect imbalances due to either de novo point mutation or altered expression of preexisting variants.