Sentence examples for consequences of the variant from inspiring English sources

If a certain hANT4 variant is found to be associated with a human disease, functional consequences of the variant is readily testable using the expression system and techniques described here.

By applying a custom-made data analysis pipeline, we have annotated the detected variants, including reported single-nucleotide polymorphisms (SNPs), genomic location, predicted miRNA binding sites, consequences of the variant in transcripts (i.e. synonymous, missense) and protein function prediction for those variants that are predicted to result in an aminoacid sustitution.

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.

In all, the functional consequences of the variants identified as strongly associated with increased risk of normal tissue toxicity following radiation exposure suggest a high biological plausibility for our findings.

Functional consequences of the variants were produced by using the Ensembl VEP (McLaren et al, 2010).

The ancestral/derived alleles and functional consequences of the variants were identified from the Ensembl database of genomic annotations (www.ensembl.org).org

Potential functional consequences of the variants can also be assessed using methods such as SIFT [ 14], PolyPhen [ 15], and SeqHBase [ 16, 17].

Ensembl Variant Effect Predictor, including SIFT (http://sift.jcvi.org/) and PolyPhen (http://genetics.bwh.harvard.edu/pph2/), was used to predict the functional consequences of the variants (http://www.ensembl.org).org

We also added datasets for functional consequences of the variants such as dbNSFP and pre-computed results of currently known genetic variants using tools such as SIFT [ 14], PolyPhen [ 15], ANNOVAR [ 7], SnpEff [ 26], and MutationAssessor [ 27].> ClinLabGeneticist is built on the Windows platform (Window 7 and 8).

When intergenic loci are identified, it is important to ascertain the functional consequence of the variant on the neighboring genes.

There are also advanced filters, such as the predicted consequence of the variant, as determined by the annotation process, or if a certain phenotype is associated with the affected genes.