ArticleHuman mutation2019
Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed.
- OpenChallenges: A FAIR-aligned, centralized platform for crowdsourced challenges in biomedical research.Patterns (New York, N.Y.) · 2026Article
- Genomic prediction with kinship-based multiple kernel learning produces hypothesis on the underlying inheritance mechanisms of phenotypic traits.Genome biology · 2025Article
- Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects.Nature communications · 2025Article
- Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.Human genomics · 2024Article
- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- Biologically meaningful genome interpretation models to address data underdetermination for the leaf and seed ionome prediction in Arabidopsis thaliana.Scientific reports · 2024Article
- FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction.Human genomics · 2024Article
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.Genome biology · 2024Article
- ProSTAGE: Predicting Effects of Mutations on Protein Stability by Using Protein Embeddings and Graph Convolutional Networks.Journal of chemical information and modeling · 2024Article
- Evaluation of crowdsourced mortality prediction models as a framework for assessing artificial intelligence in medicine.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- FUS G559A Mutation in a Patient with a Frontotemporal Dementia-Motor Neuron Disease Compatible Syndrome: A Case Report.Journal of Alzheimer's disease reports · 2023Article
- Evaluation and Comparison of Multi-Omics Data Integration Methods for Subtyping of Cutaneous Melanoma.Biomedicines · 2022Article
- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Reciprocal perspective as a super learner improves drug-target interaction prediction (MUSDTI).Scientific reports · 2022Article
- Open problems in human trait genetics.Genome biology · 2022Review
- Interpreting protein variant effects with computational predictors and deep mutational scanning.Disease models & mechanisms · 2022Review
- PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.Cell genomics · 2022Article
- Computational and experimental methods for classifying variants of unknown clinical significance.Cold Spring Harbor molecular case studies · 2022Article
- The properties of human disease mutations at protein interfaces.PLoS computational biology · 2022Article
- Computational approaches for predicting variant impact: An overview from resources, principles to applications.Frontiers in genetics · 2022Review
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4 authors.
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Abstract
Interpretation of genomic variation plays an essential role in the analysis of cancer and monogenic disease, and increasingly also in complex trait disease, with applications ranging from basic research to clinical decisions. Many computational impact prediction methods have been developed, yet the field lacks a clear consensus on their appropriate use and interpretation. The Critical Assessment of Genome Interpretation (CAGI, /'kā-jē/) is a community experiment to objectively assess computational methods for predicting the phenotypic impacts of genomic variation. CAGI participants are provided genetic variants and make blind predictions of resulting phenotype. Independent assessors evaluate the predictions by comparing with experimental and clinical data. CAGI has completed five editions with the goals of establishing the state of art in genome interpretation and of encouraging new methodological developments. This special issue (https://onlinelibrary.wiley.com/toc/10981004/2019/40/9) comprises reports from CAGI, focusing on the fifth edition that culminated in a conference that took place 5 to 7 July 2018. CAGI5 was comprised of 14 challenges and engaged hundreds of participants from a dozen countries. This edition had a notable increase in splicing and expression regulatory variant challenges, while also continuing challenges on clinical genomics, as well as complex disease datasets and missense variants in diseases ranging from cancer to Pompe disease to schizophrenia. Full information about CAGI is at https://genomeinterpretation.org.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.