Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Unlocking Mendelian disease using exome sequencing. | Gilissen et al. Genome Biology 2011 12 228 http 2011 12 9 228 w Genome Biology REVIEW L_ Unlocking Mendelian disease using exome sequencing Christian Gi lissen Alexander Hoischen Han G Brunner and Joris A Veltman Abstract Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease. The identification of the causative mutation for a Mendelian disease enables molecular diagnosis and carrier testing in the patient and his or her family. This is of great importance for patient management and family counseling and serves as a starting point for therapeutic interventions 1 . Furthermore the identification of Mendelian disease genes contributes to our understanding of gene functions and biological pathways underlying health and disease in general 2 and lessons learned from rare diseases are often also relevant to common disease 3 . Research aimed at the identification of genes that cause Mendelian disease has received a boost over the past couple of years by the introduction of new technologies that enable the sequencing of DNA at a much higher throughput and at much lower costs than previously possible 4 . Although traditional gene mapping approaches such as karyotyping 5 linkage analysis 6 homozygosity mapping 7 and copy number variation CNV analysis 8 have led to great insights into Mendelian disease over the past few decades Figure 1 they are unable to detect all forms of genomic variation Table 1 . The approach applied is dependent on whether the disease is for example caused by single nucleotide mutations or by CNVs which is difficult to predict in advance. In addition mapping approaches would often not reduce the number of candidate genes sufficiently for Correspondence Department of Human Genetics Nijmegen Centre for Molecular Life Sciences and .
