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Highly Accessed Meeting report

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

Amélie Bonnefond123 and Philippe Froguel12345

Author Affiliations

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

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