EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

@inproceedings{Coutant2012EVAEV,
  title={EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics},
  author={Sophie Coutant and Chlo{\'e} Cabot and Arnaud Lefebvre and Mgr Andr{\'e}-Mutien L{\'e}onard and {\'E}lise Prieur and Dominique Campion and Thierry Lecroq and H{\'e}l{\`e}ne Dauchel},
  booktitle={BMC Bioinformatics},
  year={2012}
}
BackgroundWhole exome sequencing (WES) has become the strategy of choice to identify a coding allelic variant for a rare human monogenic disorder. This approach is a revolution in medical genetics history, impacting both fundamental research, and diagnostic methods leading to personalized medicine. A plethora of efficient algorithms has been developed to ensure the variant discovery. They generally lead to ~20,000 variations that have to be narrow down to find the potential pathogenic allelic… CONTINUE READING
BETA
3
Twitter Mentions

Citations

Publications citing this paper.
SHOWING 1-10 OF 12 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 35 REFERENCES

dbSNP: the NCBI database of genetic variation

  • Nucleic Acids Research
  • 2001
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

Similar Papers