Sentence examples for variant function from inspiring English sources

We have discussed ongoing community efforts to address these challenges, including clinical-grade sample collection, digitalized phenotyping, acquisition of high-quality sequencing data, rigorous generation of variant calls, comprehensive functional annotation of variants, and biological validation of variant function.

Variants were tested in at least two independent experiments, with three replicates in each experiment, and assay data were analysed using the computation model VarCall.6 Briefly, VarCall is a Bayesian hierarchical model for variant function that accounts for batch-to-batch variation and aa context via random and fixed effects, respectively.

Variant function effects, denoted 'eta,' have a bimodal, two-component mixture model distribution with one component describing variation among neutral and the other describing variation among pathogenic variants; we interpret the probability that a variant's eta arises from the pathogenic component as the probability of pathogenicity and its eta as a measure of function.

The function variance is then decided by values of wCOVs for OAPs' modules either meeting constant or variant function needs (FNs).

A disadvantage of the mouse model in the study of the I148M variant function is the different tissue distribution, compared with humans.

ETV6 variant function was characterised bioinformatically and correlated with clinical and demographic features in children with ALL.We identified a novel non-sense ETV6 variant (p.Arg359X) with a high penetrance in an index family.

(3) The proposed adaptive intensity transfer function is a spatially variant mapping function associated with the local statistical characteristics of the image.

In conclusion, we propose that the AS variant functions as a modulator of the FL CA IX under circumstances when both proteins are coexpressed.

Most of the knowledge about histone variant functions comes from studies on H2A and H3, but very little is known about H2B isoforms.

Our biochemical, gene expression, and phylogenetic data suggest that the H2A.Z-1 and H2A.Z-2 variants function similarly yet they may have acquired a degree of functional independence.

As a result, how most of these individual variants function is currently unknown.