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The human gene mutation database (HGMD) is a collection of published germ-line mutations in nuclear genes that underlie , or are closely associated with human inherited disease.
For identifying the pathogenic mutation among thousands to millions of genomic variant is a major challenges and prioritization strategies are required. Current strategies for Mendelian disease gene identification by exome re-sequencing.
Next generation sequencing (NGS) has been used to identify new pathogenic mutations and genes causing rare genetic diseases. The analyses of NGS data is not trivial and required a technically and biologically rigorous pipeline that address the data quality , accurate variant filtration to minimize mistakes.
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