What question did this study set out to answer?

To update and enhance Combined Annotation-Dependent Depletion (CADD), a machine learning framework designed to predict the deleteriousness of genetic variants across the human genome.

October 11, 2018Nucleic Acids ResearchOpen Access

CADD: predicting the deleteriousness of variants throughout the human genome

View Full Paper

Ask AI

Bookmark

Authors

PRPhilipp RentzschScience for Life Laboratory DWDaniela WittenUniversity of Washington GCGregory M. CooperHudsonAlpha Institute for Biotechnology

Discussion

Member takes

Implication

Computational framework demonstrates genome-wide scoring of variant deleteriousness in human assemblies, highlighting improved prioritization of causal disease mutations.

Key Points

To update and enhance Combined Annotation-Dependent Depletion (CADD), a machine learning framework designed to predict the deleteriousness of genetic variants across the human genome.
Trained a machine learning classifier integrating over 60 genomic features to distinguish simulated de novo variants from variants fixed since the human-chimpanzee divergence.
Scored single nucleotide variants and short insertions and deletions across whole-genome assemblies, expanding compatibility to human genome build GRCh38.
Implemented CADD version 1.4 to support comprehensive variant scoring across the GRCh38 human genome reference build.
Upgraded the platform infrastructure with an Application Programming Interface, streamlined variant query tools, and enhanced pipelines for external software integration.

Cite This Study

Rentzsch et al. (2018) studied this question.

synapsesocial.com/papers/69d7d20311d83f35e5ae2b46 https://doi.org/10.1093/nar/gky1016

View Full Paper

Ask AI

Bookmark

Implication

Computational framework demonstrates genome-wide scoring of variant deleteriousness in human assemblies, highlighting improved prioritization of causal disease mutations.

CADD: predicting the deleteriousness of variants throughout the human genome

Discussion

Member takes

Implication

Key Points

Cite This Study

CADD: predicting the deleteriousness of variants throughout the human genome

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider