Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck
1 CNRS-UMR8199, Lille Pasteur Institute, Lille 59000, France
2 Lille II University, Lille 59000, France
3 European Genomic Institute for Diabetes (EGID), Lille 59000, France
4 Department of Genomics of Common Disease, School of Public Health, Imperial College London, Hammersmith Hospital, London W12 0NN, UK
5 Qatar Biomedical Research Institute (QBRI), Qatar Foundation, Doha, Qatar
Genome Biology 2013, 14:309 doi:10.1186/gb-2013-14-7-309Published: 29 July 2013
A report on the European Society of Human Genetics conference, held in Paris, France, June 8-11, 2013.