Sentence examples for consequences of variants from inspiring English sources
We also performed in vitro experiments to further validate the functional consequences of variants positively associated with CHF.
We next investigated the functional consequences of variants when expressed in the SH2B1α isoform.
It is challenging to prove that functional consequences of variants (usually assessed singly) contribute to disease pathogenesis.
Coding regions are targeted because the functional consequences of variants in these regions are much better understood than those in noncoding parts of the genome.
Putative variants were filtered for sequencing quality, and consequences of variants were called for both colonies using the Ensembl Variant Effect Predictor (v2.3) [ 43] against VectorBase genebuild AgamP3.5 [ 44] and using Ensembl API 65.3 (Dec 2011).
Functional consequences of variants were also predicted by SnpEff (http://snpeff.sourceforge.net) (stop codon, frameshift, splicing, missense, synonymous), as well as by position (coding, intronic, exon intron junction, untranslated regions).
Here we consider the roles of three primary mechanism classes: changes that directly alter protein function (missense SNPs), changes that alter transcript abundance as a consequence of variants close-by in sequence, and changes that affect splicing.
Functional Consequence Analysis of Predicted Variants Functional consequences of predicted variants (SNVs and short indels) were analyzed using a "variant effect predictor (VEP) – version 2.4" Perl script (McLaren et al., 2010 ), which is based on the ENSEMBL application programming interface (APIs).
Since we observed that one variant could have consequences for more than one transcript/gene, subsequent filtering was performed using the consequences of the variants instead of the variants themselves.
Irrespective of well-established data on functional consequences of SLCO variants, the contribution of SLCO variants to the interindividual variability of hepatic expression of OATP transporters is still unknown.
Fathmm server is a high-throughput web server that can predict phenotypic, molecular, and functional consequences of protein variants both on coding and noncoding variants.
