Many diseases are associated with genetic variants. Illuminating and identifying these genes is essential to elucidating disease trajectory and prognosis. Don’t be ...
The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false ...
Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1996, HGMD attempts to collate all known, published gene lesions responsible for human inherited disease, giving ...
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