Sentence examples for impact of a variant from inspiring English sources

In gene coding regions, the functional impact of a variant can be predicted from protein structure and function, and multiple sequence alignments.

Computational tools that can predict the impact of a variant on protein function can assist in segregating the deleterious variants from neutral ones [ 115].

Emerging methods that detect such DNA proximity (such as the Hi-C method described in [ 84, 85]) may provide data suitable for integration into future bioinformatics methods for predicting the impact of a variant.

This very high DST may underestimate the potential functional impact of a variant, since the majority of variants showing a very high DS have never been observed in mtDNA genomes from both healthy and diseased individuals.

An important use of the data is for variant interpretation, that is, the assessment of the clinical impact of a genetic variant.

Notably, hiPSC-based cell lines are gaining popularity as significant tools for disease modeling and comprehensive functional analysis, e.g., the analysis of gene expression influenced by human genome variation and validation of functional impact of a causal variant.

In the present study, we examined the impact of a risk variant for MS susceptibility, rs7665090G, on astrocyte function both in vitro and in active MS lesions, as well as on lesion pathology.

Using in silico models, namely PolyPhen-2 (Polymorphism Phenotyping v2), SIFT (Sorting Intolerant From Tolerant), and LOFTEE (Loss-Of-Function Transcript Effect Estimator), ExAC estimates the impact of a given variant on protein function.

Moreover, since environmental and genetic factors may modulate the impact of a genetic variant, we wanted to perform such interaction analyses.

This warrants a focus on subsets of individuals with a particular genetic disorder that are diagnosed with ASD which could possibly precipitate the impact of a particular variant on autistic symptomatology [1].

This is the first study that has demonstrated a prognostic impact of a LGR5/GPR49 variant in STS.