Abstract:
:The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD ( http://www.hgmd.org ) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Stenson PD,Mort M,Ball EV,Evans K,Hayden M,Heywood S,Hussain M,Phillips AD,Cooper DNdoi
10.1007/s00439-017-1779-6subject
Has Abstractpub_date
2017-06-01 00:00:00pages
665-677issue
6eissn
0340-6717issn
1432-1203pii
10.1007/s00439-017-1779-6journal_volume
136pub_type
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