Abstract：
:Databases of disease-associated or disease-causing mutations allow the study, not only of the molecular mechanisms underlying the primary lesions at the DNA level, but also of the functional consequences of mutation at the phenotypic level. The Human Gene Mutation Database (HGMD) and the bioinformatics analyses of its content provide an illustrative example of this indirect approach to molecular genetic epidemiology. In fact, the Bayesian type of reasoning underlying previous scientific analyses of HGMD data is also reflected in current software tools used to predict the likely disease relevance of a newly detected genetic variant. After a brief resume of the past scientific utility of HGMD, we, therefore, shortly review three representative and commonly used examples of these tools, namely SIFT, PolyPhen-2 and NNSplice.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Knecht C,Krawczak Mdoi
10.1007/s00439-013-1396-ysubject
Has Abstractpub_date
2014-04-01 00:00:00pages
425-30issue
4eissn
0340-6717issn
1432-1203journal_volume
133pub_type
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