A generic pipeline for CADD score generation: chickenCADD and turkeyCADD

Combined Annotation Dependent Depletion (CADD) is a machine learning approach used to predict the deleteriousness of genetic variants across a genome. By integrating diverse genomic features, CADD assigns a PHRED-like rank score to each potential variant. Unlike other methods, CADD does not rely on limited datasets of known pathogenic or benign variants but uses larger and less biased training sets. The rapid increase in high-quality genomes and functional annotations across species highlights the need for an automated, non-species-specific pipeline to generate CADD scores. Here, we introduce such a pipeline, facilitating the generation of CADD scores for various species using only a high-quality genome with gene annotation and a multi-species alignment. Additionally, we present updated chickenCADD scores and newly generated turkeyCADD scores, both generated with the pipeline.

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Publication Details

Journal
G3 Genes Genomes Genetics
Published
2025-11-11
DOI
https://doi.org/10.1093/g3journal/jkaf272
Citations
1
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
1.82
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article

A generic pipeline for CADD score generation: chickenCADD and turkeyCADD

Martien A. M. Groenen, Martijn F. L. Derks, Dick de Ridder, Kim Lensing et al.
1 citations
G3 Genes Genomes Genetics
Genomics and Rare Diseases
1.82
article

A generic pipeline for CADD score generation: chickenCADD and turkeyCADD

Martien A. M. Groenen, Martijn F. L. Derks, Dick de Ridder, Kim Lensing, Job G. C. van Schipstal
article en
1 citations

Abstract

Combined Annotation Dependent Depletion (CADD) is a machine learning approach used to predict the deleteriousness of genetic variants across a genome. By integrating diverse genomic features, CADD assigns a PHRED-like rank score to each potential variant. Unlike other methods, CADD does not rely on limited datasets of known pathogenic or benign variants but uses larger and less biased training sets. The rapid increase in high-quality genomes and functional annotations across species highlights the need for an automated, non-species-specific pipeline to generate CADD scores. Here, we introduce such a pipeline, facilitating the generation of CADD scores for various species using only a high-quality genome with gene annotation and a multi-species alignment. Additionally, we present updated chickenCADD scores and newly generated turkeyCADD scores, both generated with the pipeline.

G3 Genes Genomes GeneticsVol. 16(1)
Centre for BioSystems Genomics (NL), Wageningen University & Research (NL)
Openalex Percentile: Top 11%
Genomics and Rare Diseases
1.82
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