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However, as exon 2 is longer and fully contains exon 6, it is made distinct, while exon 6 is classified variant.
In silico analysis using the prediction programs Mutation Taster (http://www.mutationtaster.org) and PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/) classified variant I as a benign polymorphism (rs1131188481).
Though Mitrokhin never had any thought of aligning himself openly with the human rights movement, the example of the Chronicle Of Current Events, and other samizdat productions, helped to inspire him with the idea of producing a classified variant of the dissidents' attempts to document the iniquities of the Soviet system.
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Bayesian integration with in silico predictions of pathogenicity increased the proportion of correctly classified variants to 87%, without changing the discordance rate.
More recently, classified variants have been assigned as chronologically numbered EV types (currently to EV-C116).
Briefly, we sequenced MC1R and classified variants D84E, R142H, R151C, I155T, R160W, D294H as 'R' variants and all other variants excluding synonymous changes and non-coding changes as 'r' variants.
While there is limited data within ancestry groups here, the well-curated in/del data will be a boon to those classifying variant pathogenicity.
The objective of this study was to assess the use of functional data to classify variants according to pathogenicity.
Direct assessment of variants using high-throughput functional assays can help with classifying variants and will be instrumental to benchmark the prediction models.
Second, the key task is not just to identify any genetic variant, but to classify variants that are functional from random passengers.
Iversen, E. S., Couch, F. J., Goldgar, D. E., Tavtigian, S. V. & Monteiro, A. N. A. Computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
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