PMC:4385177 / 6233-7350 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385177","sourcedb":"PMC","sourceid":"4385177","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385177","text":"In view of the apparently recessive inheritance pattern and history of consanguinity, we initially selected all homozygous variants for consideration. Subsequently, synonymous variants not predicted to affect splicing (i.e., those not within ten bases, in either direction, of the intron-exon boundary) were discarded. Given the rarity of AR isolated dystonia, we further hypothesized that the causal variant would not be found in any database of normal sequence variation. However, in order to minimize the possibility of incorrectly assigning causality, we filtered out only those variants at a minor allele frequency of greater than 0.5%. Given that a variant found at even this frequency would be expected to occur naturally in the homozygous state in around 1 in every 160,000 births, it seemed distinctly unlikely that we would risk filtering out the causal variant with this cutoff. Finally, variants that were located in regions of shared homozygosity were selected as potentially causal (see Table 1). No filtration was performed on the basis of in silico predictions of pathogenicity or conservation scores.","tracks":[]}