David N. Cooper

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

M. Mort, M. Lopes-Marques, David N. Cooper, 2024, Human genomics.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

RegSNPs-Intron: A computational framework for prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

Michael T. Eadon, Yaoqi Zhou, M. Dolan, 2019, bioRxiv.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

Y. Pawitan, D. Cooper, C. Polychronakos, 2013, Molecular Psychiatry.