Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck

Meeting report

Amélie Bonnefond¹²³ and Philippe Froguel¹²³⁴⁵

Corresponding authors: Amélie Bonnefond amelie.bonnefond@good.ibl.fr - Philippe Froguel froguel@good.ibl.fr

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-2013-14-7-309

Published: 29 July 2013

A report on the European Society of Human Genetics conference, held in Paris, France, June 8-11, 2013.

Bioinformatics; genome sequencing; next-generation sequencing; prioritization of variants; rare disorder; syndrome; whole-exome sequencing