Evaluating the Utility of REVEL and CADD for Interpreting Variants ...

Our findings allow us to provide important recommendations for the use of REVEL and CADD scores for variants and indicate that both tools should be used with ...

1 Title 1 Evaluating the utility of REVEL and CADD for interpreting ...

A) Description of the sample sizes and. 664 rare, coding variants identified in ALS-associated genes in the ALS Knowledge Portal (ALSKP). 665.

(PDF) Evaluating the utility of REVEL and CADD for interpreting ...

Our findings allow us to provide important recommendations of the use of REVEL and CADD scores for variants, and indicate that both tools should ...

[PDF] Evaluating the utility of REVEL and CADD for interpreting ...

The results indicate a predetermined pathogenicity threshold for REVEL that could be of clinical value for classifying variants in ALS-associated genes, ...

Evaluating the utility of REVEL and CADD for interpreting variants in ...

Evaluating the utility of REVEL and CADD for interpreting variants in amyotrophic lateral sclerosis genes. Citation metadata. Date: Aug. 25, 2023.

Evaluating the utility of REVEL and CADD for interpreting ... - Altmetric

Evaluating the utility of REVEL and CADD for interpreting variants in amyotrophic lateral sclerosis genes. Published in. medRxiv, August 2023.

REVEL: An Ensemble Method for Predicting the Pathogenicity of ...

The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low ...

Characterising the Genetic Landscape of Amyotrophic Lateral ...

S1). A breakdown of CADD scores by variant type, per gene is shown in Supplementary Fig. S2. REVEL scores use an absolute range of 0-1 to ...

REVEL and BayesDel outperform other in silico meta-predictors for ...

... importance of gene-specific assessment of variant pathogenicity. ... use with ACMG/AMP clinical variant interpretation guidelines. Genome ...

CADD: predicting the deleteriousness of variants throughout the ...

As genomic annotations grow in depth and breadth, CADD and CADD-inspired variant scores will continue to improve and provide utility across a ...

Choosing Variant Interpretation Tools for Clinical Applications - MDPI

Examining the outcomes for different ρ values (Figure 5), we observe a clear predominance of REVEL. This predominance has multiple origins. One ...

Performance evaluation of pathogenicity-computation methods for ...

... use several tools simultaneously to interpret the pathogenicity of missense variants. ... et al. REVEL: an ensemble method for predicting ...

REVEL: An ensemble method for predicting the pathogenicity of rare ...

We developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual ...

Comparison of Pathogenicity Prediction Tools on Somatic Variants

REVEL and CADD, 292 (20.3), 72.56, 0.36, 96.24, 28.78 ... Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.

Evaluation of in silico algorithms for use with ACMG/AMP clinical ...

The American College of Medical Genetics and American College of Pathologists (ACMG/AMP) variant classification guidelines for clinical ...

Ensembl Variation - Pathogenicity predictions

The Combined Annotation Dependent Depletion (CADD) tool scores the ... Algorithms to evaluate missense variants. We provide results from a number of ...

Using computational approaches to enhance the interpretation of ...

Here, we evaluated and optimised the performance of computational prediction tools in relation to PAX6 missense variants.

Evidence-based calibration of computational tools for missense ...

... use of computational tools in the clinical interpretation of variants. ... assessment of additional clinical variant interpretation tools ...

A novel statistical method for interpreting the pathogenicity of rare ...

The performance of this new method is evaluated on both simulated and real data sets coupled with experimental validation. As a result, we demonstrate this new ...

Evaluation of in silico predictors on short nucleotide variants ... - eLife

Our results show that CADD, Eigen-PC, and REVEL are the overall top performers, with the former reaching moderate strength level for pathogenic ...