Exact(1)
Interestingly, majority of these are found at regions with very high variant density (b), suggeting that the haplotype predictions from parent-trio data at these regions could be error-prone, which in-turn results in higher h-trans in HaploSeq datasets.
Similar(59)
This must be weighed against increased test cost, delayed turn-around time, and the potentially paralyzing failure to confirm a very high quality variant of clinical significance.
Similarly, restricting the variants in the test set to only very high quality variants will also bias the concordance statistic, as would restricting the variants included in the truth set to those readily called in NGS data.
* WSXGA+, to be specific, was a very high resolution SVGA variant for larger screen sizes (back in the day).
While longer units result in model with very high number of variants.
If the selection coefficient is very high, the causal variants will tend to be very rare, and very large sample sizes are required to detect association, particularly with the SNP association test.
The risk of skin cancer is very high for xeroderma pigmentosum variant patients with defective excision repair of UVB-type DNA damage, e.g., of cyclobutane pyrimidine dimers (CPD).
These approaches may be particularly beneficial for low quality FFPE DNA, which will require very high analytical sensitivity for variant detection to capture a broader group of clinically relevant mutations, such as those encountered in early stage drug resistance [ 28, 29].
When compared between replicates, both SNVs (Additional file 7: Figure S7 and Additional file 8: Figure S8) and indels (Additional file 9: Figure S9), showed similar trends in detecting total number of variants and showed very high overlap in newly detected variants.
Following the human genome project [ 1] and with the increasing efficiency and throughput of genotyping techniques, very high numbers of genetic variants can be examined for predisposition to disease [ 2].
Third, we found that although coverage of common variation in the exon pilot dataset by the variants in the low coverage pilot data is very high, its coverage of low frequency variants by the variants in the low coverage pilot dataset was very poor.
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