[ top ]
<gene source="HGNC" accession="BRACA2"/> <gene source="HGNC" accession="BRACA2"> <db_xref accession="600185" uri="http://www.ncbi.nlm.nih.gov/omim/600185" source="OMIM"/> <db_xref accession="BRACA2" source="HGNC" uri="http://www.genenames.org/data/hgnc_data.php?hgnc_id=1101"/> </gene>
A database to collect and display variants in the DNA sequence.
The focus of an LSDB is usually the combination between a gene and a genetic (heritable) disease. All sequence variants found in individuals are collected in the database, together with information about whether they could be causally connected to the disease (i.e. a disease-causing variant or mutation) or not (i.e. a non-disease causing variant). Specialized doctors (clinical geneticists) use LSDBs to diagnose and advise patients carrying a genetic disease. Ideally, if a patient has been screened for mutations and one has been found, information in LSDB can predict the progress of the disease. In contrast to human genome databases, showing information on all DNA variants, LSDBs include information about the individuals in which the variants were found. This patient information is only accessible for registered users.[ top ]