Unlocking Mendelian disease using exome sequencing |
| |
| Authors: | Christian Gilissen Alexander Hoischen Han G Brunner Joris A Veltman |
| |
| Affiliation: | Department of Human Genetics, Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. c.gilissen@antrg.umcn.nl |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 PubMed SpringerLink 等数据库收录！ |
