An aberrantly spliced mRNA containing the variant and a premature stop codon was identified in 1 of the 40 clones. Real-time quantitative PCR showed significantly lower LMNA mRNA levels in the patient's heart compared to the controls. Our findings suggest that the c.936G>A LMNA variant ...
Ultimately, improvements in variant predictors will only occur with enhancements to genetic data sets. usDSM (Deleterious Synonymous Mutation Prediction using Undersampling Scheme) [172] and synVep (Synonymous Variant Effect Predictor) [21] are newer tools that have demonstrated improved proficiencies by...
As applied in these aforementioned studies, prediction tools can be used to simulate folding of both the wild type and mutant sequences and to calculate the free energy of the best candidate structures. A single synonymous variant can perturb the conformational ensemble and shift folding dynamics, ...
We developed synVep (synonymous Variant effect predictor), a machine learning-based method that overcomes both of these limitations. Our training data was a combination of variants reported by gnomAD (observed) and those unreported, but possible in the human genome (generated). We used positive-...
A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system doi:10.1002/ajmg.a.63823American Journal of Medical Genetics. Part AWang, YaopingWang, HongdanYang, WenkeGuo, HanZhang, MengtingGao, YueKang, BingLiao, ...
A larger patient sample size will be needed to statistically determine the true toxic maculopathy-associated variant, c.5814A > G or c.5844A > G. It should be emphasized that the range of risk reduction of the toxic maculopathy-associated ABCA4 variants is well comparable to odds ...
A single synonymous variant (c.354G>A [p.P118P]) in ADAMTS13 confers enhanced specific activity. Int. J. Mol. Sci. 20, 5734 (2019). Article CAS PubMed PubMed Central Google Scholar Crombie, T., Boyle, J. P., Coggins, J. R. & Brown, A. J. The folding of the bifunctional ...
A non-synonymous variant, rs12614 (Arg32Trp) in exon2 of CFB, had significant associations with risk of CHB (odds ratio = 0.43, P = 5.91 × 10− 10). Additional linkage disequilibrium and conditional analysis confirmed that rs12614 had independent genetic effect on CHB ...
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French familyAndreea Apetrei aArnaud Molin aNicolas Gruchy aManon Godin a...
Computational identification of deleterious synonymous variants in human genomes using a feature-based approachSynonymous variant, Pathogenicity prediction, Feature ... OJ Buske,AK Manickaraj,S Mital,... - 《Bioinformatics》 被引量: 0发表: 2015年 corrigendum identification of deleterious synonymous varia...