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For example, the mRNA gene could be broken down into introns and exons with multiple coding variants and noncoding variants that control mRNA splicing.
In other cases, such as ApoE4, multiple coding variants must lie on the same haplotype within a single coding sequence in order to effect a particular phenotypic change.
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Third, we review our identification and functional characterization of multiple, hyperactive SERT coding variants in subjects with autism.
This distribution of allele frequencies means that testing the cumulative effects of multiple low frequency coding variants could be used to potentially improve power.
Other approaches have shown that multiple low frequency coding variants in one or more genes accumulate at the tails of a population distribution for a continuous trait such as lipid levels [ 8] or blood pressure [ 9].
Diseased individuals possessed an increased load of deleteriousness from multiple concurrent rare and common coding variants.
Several genes were known to contain polymorphisms at multiple sites that are of functional importance (e.g. the 5'and coding variants of MBL2) [ 14], thus multiple variants were genotyped and the haplotype recorded.
In some coding loci, 2 3 coding variants were accompanied by anywhere from 1 to 50 non-coding variants.
The Illumina Human Exome BeadChip includes coding variants identified in a reference panel of more than 12,000 whole-exome and whole-genome sequences from multiple ancestry groups.
Common coding variants in APOE and common noncoding variants in FOXO3A have been associated with EL and replicated across multiple populations (Deelen et al., 2011; Brooks-Wilson, 2013; Garatachea et al., 2014).
No Rarb coding variants were detected by sequencing.
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