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Andrew Phillips

Research Associate

School of Medicine

Email:
phillipsad@cardiff.ac.uk
Telephone:
+44 29207 45116
Location:
Institute Of Medical Genetics

I am one of the bio-curators working on the Human Gene Mutation Database (HGMD®), a comprehensive collection of germline mutations in nuclear genes underlying or associated with human inherited disease. HGMD is freely available to users from academic/non-profit organisations at the public website (after registration at http://www.hgmd.cf.ac.uk/docs/register.html). Mutation data are made available on the public site three and a half years after initial inclusion in the database. An up-to-date version of HGMD (HGMD Professional) is available via license from our commercial partners, QIAGEN Bioinformatics. As well as the extra mutations, HGMD Professional includes various additional data and programs including genomic coordinates/HGVS nomenclature/VCF data for the majority of lesions, secondary references for entries (details of functional studies, case reports, etc.), and a suite of search and analysis tools. More information on HGMD can be found in Stenson et al. (2017) The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665-677. doi: 10.1007/s00439-017-1779-6 [PubMed]

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