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TNF-α-induced protein 3, if confirmed to be the relevant variant, would be of interest because it functions as a negative regulator of nuclear factor-κB activation in response to Toll-like receptors, and mice deficient for TNF-α-induced protein 3 develop an auto-inflammatory syndrome [ 40- 42].
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Further genetic and functional studies are required to identify the relevant variant(s) at this locus and to investigate their effect(s) on T2DM susceptibility.
Ideally, any diagnostic method for HCV genotyping should be able to distinguish between all the relevant variants simultaneously.
Once the relevant variants have been confirmed via verification, qualified genetic counsellors should return these results at an appropriate level for full participant understanding.
Moreover, there have also been reports that the association of 5-HTTLPR may only be present when paired with an intron-2 (STin2) polymorphism [ 11] and that the intron-2 (STin2) polymorphism itself may be the variant more relevant for ADHD.
Thus, currently, association studies in ALI have exclusively used a candidate gene approach, in which one or several genes – known to be etiologically involved in the disease �� are studied for relevant variant sites.
Once the annotated list of variants has been created, the phenotype relevant variant has to be identified.
Screen shot of chromosome 10 data (sequence coverage on top, the red circle underneath is a clinically relevant variant showing carrier status of a protein disorder).
Integrating effective clinical decision support tools into the EMR, to query a patient's genomic data as care is being delivered, will be needed to present relevant variants and recommendations only when they are indicated.
We were interested in which of the three highly correlated FTO variants were most closely correlated with the biologically relevant variant at this locus or in discerning whether one of these variants themselves was responsible for the observed association signal.
It has been suggested that matching for gender may not be relevant unless the variant causes early gender-specific mortality (which would result in a deviation from the Hardy Weinberg equilibrium) (Hemminki and Forsti, 2002).
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