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The RAVEN background variant set consists of 3,856 variants that are within the 10 kb region upstream of genes that are conserved between mice and humans.
These false heteroplasmy predictions from the WES reads were assumed to have occurred due to erroneous "background" variant base calls of threefold and fivefold, as compared to most base positions, which had only a "background" variant call level of between zerofold and twofold.
ROC curves (true positive rate versus false positive rate) and AUCs for SuRFR, GWAVA and CADD run on a non-exonic, non-coding dataset of ClinVar pathogenic variants versus a matched 1000 Genomes background variant set.
This method has been tested on known regulatory and disease variants and a proposed benchmark background variant dataset and has been shown to perform with high sensitivity and specificity.
Multivariable logistic regression on the full training/validation set was used to assess the relationship between chromatin states and variant type (regulatory or background variant) across the nine cell lines using the R function glm.
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BMC Endocrine Disorders 7: 1. Background: Variants of uncoupling protein genes UCP1 and UCP2 have been associated with a range of traits.
Background Variants in the cardiomyocyte-specific RNA splicing factor RBM20 have been linked to familial cardiomyopathy, but the causative genetic architecture and clinical consequences of this disease are incompletely defined.
"The association between vitamin B12, albuminuria and reduced kidney function: an observational cohort study". BMC Nephrology 16 (1): 7. doi:10.1186/1471-2369-16-7. http://dx.doi.org/10.1186/1471-2369-16-7. BaCUBNound: Varianthein CUBN, the gene encoding cubilin, a proximal tubular transport protein, have been associated with albuminuria and vitamin B12 (B12) deficiency.
The Zuryn et al. strategy requires multiple, non-allelic C. elegans strains to eliminate background variants through comparing WGS datasets [16].
Some of these datasets also contain background variants.
Several sources of both functional and background variants were used.
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