Quantifying single nucleotide variant detection sensitivity in exome sequencing. - Alison M. Meynert; Louise S. Bicknell; Matthew E. Hurles; Andrew P. Jackson; Martin S. Taylor (BMC Bioinform., 2013)

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. - Sebastian Köhler 001; Sandra C. Doelken; Christopher J. Mungall; Sebastian Bauer 002; Helen V. Firth; Isabelle Bailleul-Forestier; Graeme C. M. Black; Danielle L. Brown; Michael Brudno; Jennifer Campbell; David R. FitzPatrick; Janan T. Eppig; et al. (Nucleic Acids Res., 2014)

Lagging-strand replication shapes the mutational landscape of the genome. - Martin A. M. Reijns; Harriet Kemp; James Ding; Sophie Marion de Procé; Andrew P. Jackson; Martin S. Taylor (Nat., 2015)