ArticleBMC bioinformatics2026
CADD-ThresholdApp: an interactive web application for calibrating CADD scores using ClinVar.
Article in BMC bioinformatics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Combined Annotation Dependent Depletion (CADD) score is one of the most widely used genome-wide variant deleteriousness scores. In practice, however, the distribution of CADD scores differs across genes and gene sets and may also vary between genome builds and CADD releases, complicating the choice of a single threshold for prioritizing potentially pathogenic variants in routine diagnostics.
resultsWe present CADD-ThresholdApp, an interactive web application that supports threshold selection by visualizing CADD-score distributions of clinically classified variants from ClinVar and by reporting threshold-dependent performance metrics. The app enables comparisons across genome releases (GRCh37/GRCh38) and CADD versions (v1.6/v1.7), supports user-defined genes and gene lists, as well as curated gene panels from PanelApp. CADD-ThresholdApp is implemented in a modular, extensible framework and can be adapted to additional variant resources and deleteriousness scores. The app is available as a hosted web application at https://cadd-threshold.kircherlab.bihealth.org/ and can be installed locally via container, PyPI, Bioconda, or from source.
conclusionsOverall, CADD-ThresholdApp provides a practical and transparent framework for context-specific threshold calibration to support more informed variant interpretation in research and diagnostics.
Indexed as
Identifiers
What OpenQuestion holds
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.