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We defined variant accuracy (VA) as the percentage of homoplasmic and heteroplasmic variant calls by Sanger that were concordant with 454 vs. total number of variants found by both technologies; we calculated variant accuracy as VA = (B2 + C3) / (A2 + A3 + B2 + B3 + C2 + C3).
The DNA sequences of HPV-16, -18, -33 and -68 revealed HPV variants found by other African studies.
Regarding the amount of sequence variants found by the algorithms, both VarScan and CRISP found well above 9400 variants, corresponding to roughly one variant every four bases.
First, oligodendroglioma structural variants were compared against structural variants found by Optical Mapping of 6 other normal human genomes by our laboratory.
Considering the difference between the sample sets, it is likely that the rare variants found by us were not identified in the study of Yeager et al (2009).
Several speakers reported new susceptibility loci, harboring an excess of rare variants, found by whole genome or exome sequencing in patients and controls at the phenotypic extremes.
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This variant 1979624A>C was 31 nt centomeric to the 1979595T>C variant found by Demars et al. and us.
GensearchNGS also integrates the possibility to talk to other software installed by the user, such as Alamut [ 35], allowing the user to easily open a variant found by GensearchNGS inside a local Alamut installation.
Variants found deleterious by any two out of three tools were prioritized.
Interestingly, all the variants found and considered by the authors as pathogenic, with the exception of D169G in exon 4, are situated in exon 6; all non-synonymous but benign variants identified by us, lie outside of this exon.
Then, for each variant caller we determine the singly-called variants (i.e. variants found at most by one or a user-defined number of callers).
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com