Purpose Next-generation sequencing (NGS) has transformed genetic research and is poised to revolutionize clinical diagnosis. and identified incidental variants with likely clinical relevance. Incorporation of the Human Gene Mutation Database (HGMD) improved the yield for missense mutations, but also revealed that a substantial proportion of purported disease-causing mutations were misleading. Conclusions This approach is certainly… Continue reading Purpose Next-generation sequencing (NGS) has transformed genetic research and is poised