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Having established variant tilting and domain configurations resulting from monoclinic structure, we turn now to discuss the origin.
The genotypes obtained by shearwater have a higher prognostic value than those from established variant callers, and are likely to contain fewer artifacts.
The novelty of all identified variants was determined by comparison with established variant databases (including dbSNP137, 1000 Genomes SNP calls and the NHLBI Exome Sequencing project) as well as direct sequencing of ethnically-matched 150 300 control chromosomes.
The established variant rs17782313 near MC4R was associated with increased snacking behavior and a higher hunger score on the Three-Factor Eating Questionnaire (TFEQ) (Stutzmann et al. 2009; Stunkard and Messick 1985).
We compared shearwater's specificity on 32 normal samples against three other algorithms: Caveman, an established variant caller, which has been used in many large-scale genome and exome sequencing projects (Jones et al., unpublished data; Nik-Zainal et al., 2012; Stephens et al., 2012), MuTect (Cibulskis et al., 2013) and deepSNV (Gerstung et al., 2012).
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When it comes to that inserted sound, here are some possible (already established) variants: There are many established variants, and you're completely welcome to come up with your own twist -- though no one else will understand you.
The results obtained with AICc are compared to other established variants of the AICc criterion, the AICc difference Δ k and the AICc weights w k.
The established variants were cross-checked with the « clinvar » database (http://www.ncbi.nlm.nih.gov/clinvar/) which theoretically contains all genes variations.
Although the distinction between candidate and established variants is not crystal clear and findings from genome-wide association studies may be robust, we can expect that the predictive value of variants that are less convincingly established is less likely to be replicated in independent populations.
Three genes (HSPG2, CELA1, and KCNK5) were nominated as related to the pathogenesis of BEN based on their mutation frequency, their similar incidence in both Bulgarian and Serbian patients' groups, lack of information about the established variants in European population, and nonincidence in healthy Bulgarians.
However, all established variants use the same pattern: A nonsense sound is inserted into every syllable when speaking.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com