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Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck |
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| Authors: | Amélie Bonnefond Philippe Froguel |
| Institution: | 1. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK |
| Abstract: | A report on the European Society of Human Genetics conference, held in Paris, France, June 8-11, 2013. |
| Keywords: | Bioinformatics genome sequencing next-generation sequencing prioritization of variants rare disorder syndrome whole-exome sequencing |
| 本文献已被 SpringerLink 等数据库收录！ | |