ArticleHuman mutation2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
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 13 papers.
What it found
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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
13 citing papers in PubMed.
- Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.BioData mining · 2026Article
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.Genome biology · 2024Article
- A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer.Briefings in bioinformatics · 2023Review
- Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants.Scientific reports · 2023Article
- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Clinical validation of genomic functional screen data: Analysis of observedHGG advances · 2022Article
- Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.International journal of molecular sciences · 2021Article
- LEAP: Using machine learning to support variant classification in a clinical setting.Human mutation · 2020Article
- Variant effect predictions capture some aspects of deep mutational scanning experiments.BMC bioinformatics · 2020Article
- Predicting pathogenicity of missense variants with weakly supervised regression.Human mutation · 2019Article
- CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation.Human mutation · 2019Article
- Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.Human mutation · 2019Article
- Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation.Human mutation · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors.
Funding
Abstract
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standard clinical practice and is helping countless women better understand and manage their heritable risk of breast and ovarian cancer. Yet the increased rate of BRCA1/2 testing has led to an increasing number of Variants of Uncertain Significance (VUS), and the rate of VUS discovery currently outpaces the rate of clinical variant interpretation. Computational prediction is a key component of the variant interpretation pipeline. In the CAGI5 ENIGMA Challenge, six prediction teams submitted predictions on 326 newly-interpreted variants from the ENIGMA Consortium. By evaluating these predictions against the new interpretations, we have gained a number of insights on the state of the art of variant prediction and specific steps to further advance this state of the art.
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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 OpenQuestion graph.