validator_2019-07-10.sql.gz

MySQL database containing transcript and gene information for use with VariantValidator available at:https://github.com/openvar/variantValidator</div

uta_20180821_vv.pgd.gz

Repaired version of the UTA datadump uta_20180821.pgd.gz. Specifically, corrects the lacking REFRESH MATERIALIZED VIEWS. Will be required for VariantValidator and VerisntValidator in docker.VariantValidator available at:https://github.com/openvar/variantValidator </div

validator_2019-09-18.sql.gz

additional data for https://github.com/openvar/variantValidator</a

validator_2020-02-13.sql

Database containing VariantValidator data for use with https://github.com/openvar/variantValidator

validator_2019-09-10.sql.gz

VariantValidator database for use with https://github.com/openvar/variantValidator</a

VariantValidator paper in Human Mutation

This is the first published account of the VariantValidator software for the validation of variant descriptions presented in HGVS format

Dataset supporting the illustration of the accuracy of quantification using the Array-DASH process (Figure 9.zip)

This data set represents the estimation of the amount of the LSCAN 1 target in the mixtures based on both the peak height and peak area of the C allele signal in the Array-DASH profile from positions 8 and 25. See text file in the package for a further explanation.Please note the addition of a figure to the manuscript has caused the figure number to be increased by 1 compared to those in the file name. </div

Dataset supporting the illustration of the semi-quantitive nature of the Array-DASH approach (Figure 8.zip)

This data set contains ArrayDASH data from mixtures of synthetic oligonucleotides that differ at two specific locations such that one carries T bases and the other carries G bases resulting in an AC genotype call. The oligonucleotide carrying the G base is gradually decreased in the mixtures across the set to construct a standard curve to test the sensitivity of the system for this base combination to show the potential of the system.Please note the addition of a figure to the manuscript has caused the figure number to be increased by 1 compared to those in the file name. </div

Dataset supporting the illustration of the effect of a heterozygous position on the Array-DASH profiles of adjacent bases (Figure 6.zip).

This data set contains ArrayDASH data from mixtures of synthetic oligonucleotides that differ at two specific locations such that one carries T bases and the other carries G bases resulting in an AC genotype call. This is used to investigate the effect of a heterozygous position on the Array-DASH profiles from adjacent positions.Please note the addition of a figure to the manuscript has caused the figure number to be increased by 1 compared to those in the file name. </div

Dataset supporting the illustration of the effect of a non-reference base position on adjacent bases calls, in Array-DASH based re-sequencing (Figure 4.zip)

This is a dataset relating to the use of the Array-DASH method to two test oligonucleotide sequences that differed at 3 known positions. LSCAN 1 was the perfect reverse compliment of the reference sequence used to design the array while LSCAN 2 contained 3 known changes. See text files for more details.Please note the addition of a figure to the manuscript has caused the figure number to be increased by 1 compared to those in the file name. </div