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)

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. - Eugene Bragin; Eleni A. Chatzimichali; Caroline F. Wright; Matthew E. Hurles; Helen V. Firth; A. Paul Bevan; Jawahar Swaminathan (Nucleic Acids Res., 2014)

Using population data for assessing next-generation sequencing performance. - Darren T. Houniet; Thahira J. Rahman; Saeed Al Turki; Matthew E. Hurles; Yaobo Xu; Judith A. Goodship; Bernard D. Keavney; Mauro F. Santibanez-Koref (Bioinform., 2015)

VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations. - James D. Stephenson; Roman A. Laskowski; Andrew Nightingale; Matthew E. Hurles; Janet M. Thornton (Bioinform., 2019)

Whole-genome sequencing of patients with rare diseases in a national health system. - Ernest Turro; William J. Astle; Karyn Megy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis-Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; et al. (Nat., 2020)