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

作者：Bonnefond Amelie^*; Froguel Philippe

来源：Genome Biology, 2013, 14(7): 309.

DOI：10.1186/gb-2013-14-7-309

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

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

• 出版日期2013