SeqAnt 2012: Recent Developments in Next-Generation Sequencing Annotation

The discovery of genome-wide genetic variation was central to the field of genomics [1,2]. Now, recent advances in second-generation sequencing technologies and better methods of targeted enrichment mean the detection of genome-wide patterns of genetic variation will soon be a routine operation [3,4]. Yet these advances in DNA sequencing have revealed a new bottleneck: the functional classification and interpretation of newly discovered genetic variation.