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(d) Comparison of variants annotated as pathogenic in dbNSFP and after correction for the three variant effect predictors: PROVEAN, PolyPhen-2 (HumVar), and SIFT.
In this alignment, the 3DP1 sequences naturally terminate at the end of exon 5. Comparison of variants characterizing the A and B haplotypes was performed (Figure 3B, C).
Data analyses and comparison of variants between the multiple sequencing runs were performed using custom Perl scripts.
Specifically, SNAP2 might be the ideal starting point for the comparison of variants between species, e.g. human vs. chimp vs. mouse.
We illustrated the generality of our approach through several applications, including the clustering of variants from a paired-end sequencing study of nine individuals, the comparison of variants in normal and cancer genomes derived through different sequencing approaches, and the comparison of variants identified by aCGH and paired-end sequencing of the same cancer samples.
The comparison of variants classification by our workflow to the ones obtained with alternative methods demonstrates that our method increases both the power (i.e. less false-negatives) and the robustness (i.e. less false-positives) of allelic assignments, as exemplified below.
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Hwang, S., Kim, E., Lee, I. & Marcotte, E. M. Systematic comparison of variant calling pipelines using gold standard personal exome variants.
For example, comparison of variant calls may be confounded by different representations of insertions, deletions, and multiple nucleotide polymorphisms particularly when exploring complex regions of the genome62.
Voters: Voters are based on a relative judgement on result acceptability by comparison of variant results (Pullum [2001]).
Comparison of variant allele frequencies.
The comparison of variant genes in both MSC differentiation pathways identified 67 genes associated with myogenesis.
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