Novel bioinformatic developments for exome sequencing

Hum Genet. 2016 Jun;135(6):603-14. doi: 10.1007/s00439-016-1658-6. Epub 2016 Apr 13.


With the widespread adoption of next generation sequencing technologies by the genetics community and the rapid decrease in costs per base, exome sequencing has become a standard within the repertoire of genetic experiments for both research and diagnostics. Although bioinformatics now offers standard solutions for the analysis of exome sequencing data, many challenges still remain; especially the increasing scale at which exome data are now being generated has given rise to novel challenges in how to efficiently store, analyze and interpret exome data of this magnitude. In this review we discuss some of the recent developments in bioinformatics for exome sequencing and the directions that this is taking us to. With these developments, exome sequencing is paving the way for the next big challenge, the application of whole genome sequencing.

Publication types

  • Review

MeSH terms

  • Computational Biology*
  • Exome / genetics*
  • Genome, Human*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Sequence Analysis, DNA