Novel bioinformatic developments for exome sequencing

@inproceedings{Lelieveld2016NovelBD,
  title={Novel bioinformatic developments for exome sequencing},
  author={Stefan H. Lelieveld and Joris A. Veltman and Christian Gilissen},
  booktitle={Human Genetics},
  year={2016}
}
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… CONTINUE READING
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