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Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies

Lookup NU author(s): Dr David Lewis-Smith, Dr Rhys ThomasORCiD

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Author(s): Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A, NCEE Study Group, EPGP Investigators, EuroEpinomics Consortium, Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2020

Volume: 107

Issue: 4

Pages: 683-697

Print publication date: 01/10/2020

Online publication date: 26/08/2020

Acceptance date: 21/07/2020

Date deposited: 02/08/2020

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: https://doi.org/10.1016/j.ajhg.2020.08.003

DOI: 10.1016/j.ajhg.2020.08.003

Data Access Statement: The code generated during this study are available through GitHub (https://github.com/galerp/helbig_lab_hpo_sim). The data from EuroEPINOMICS-RES (EGA), accession numbers EGAS00001000190, EGAS00001000386, and EGAS00001000048, and Epi4k (dbgap), accession number phs000653.v2.p1, are publicly available. A subset of the datasets supporting the current study have not been depos- ited in a public repository because of local consent and IRB restrictions but are available from the corresponding author on request

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