[HTML][HTML] CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome biology, 2024 - Springer
… In this work, we analyze the first decade of CAGI … genome variation interpretation. Results
are presented from three perspectives to provide (i) the clinical community with an assessment …
are presented from three perspectives to provide (i) the clinical community with an assessment …
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac… - Genome …, 2024 - cris.unibo.it
Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the
state-of-the-art for computational prediction of genetic variant impact, particularly where …
state-of-the-art for computational prediction of genetic variant impact, particularly where …
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for …
S Jain, C Bakolitsa, EB Steven, P Radivojac… - Genome …, 2024 - iris.uniroma1.it
Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the
state-of-the-art for computational prediction of genetic variant impact, particularly where …
state-of-the-art for computational prediction of genetic variant impact, particularly where …
… whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes …
… The Critical Assessment of Genome Interpretation 5 SickKids clinical genome challenge
provided an opportunity to assess … Here, we report our approach and results for the SickKids5 …
provided an opportunity to assess … Here, we report our approach and results for the SickKids5 …
[HTML][HTML] An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
… , the Critical Assessment of Genome Interpretation (CAGI) … the model overfits the CAGI data,
we assess the generalization … %), the causative variant was ranked in the top 5th positions. …
we assess the generalization … %), the causative variant was ranked in the top 5th positions. …
Problems in variation interpretation guidelines and in their implementation in computational tools
M Vihinen - Molecular Genetics & Genomic Medicine, 2020 - Wiley Online Library
… studies reporting all the relevant performance measures. Currently variation interpretation
… Fifth, the schemes implicitly promote an idea of dichotomic distribution of variations either to …
… Fifth, the schemes implicitly promote an idea of dichotomic distribution of variations either to …
Integration of protein structure and population-scale DNA sequence data for disease gene discovery and variant interpretation
… and assessment, and reporting errors (… Critical Assessment of Genome Interpretation (CAGI)
is an analog to CASP that provides the scientific community with a framework for assessing …
is an analog to CASP that provides the scientific community with a framework for assessing …
[HTML][HTML] Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays …
S Özkan, N Padilla, X de la Cruz - International journal of molecular …, 2021 - mdpi.com
… DNA repair and saturation genome editing assays are available. … in the following, we will
restrict our analysis to RF predictors. … In this context, we believe that our results at CAGI 5 are …
restrict our analysis to RF predictors. … In this context, we believe that our results at CAGI 5 are …
[HTML][HTML] A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
… with conflicting interpretations among different sources and those reported by ClinVar … ,
ClinVar is exploited for ACMG/AMP criteria evaluation and triggering 19 . Since the ML model will …
ClinVar is exploited for ACMG/AMP criteria evaluation and triggering 19 . Since the ML model will …
[HTML][HTML] Genetic diversity of Helicobacter pylori type IV secretion system cagI and cagN genes and their association with clinical diseases
Y Azizimoghaddam, S Kermanpour, N Mirzaei… - Scientific Reports, 2023 - nature.com
… A number of cagPAI genes in the Helicobacter pylori genome … Direct DNA sequence analysis
was performed for the cagI … cancer, which is the fifth most common malignancy and the third …
was performed for the cagI … cancer, which is the fifth most common malignancy and the third …