A framework for variation discovery and genotyping using next-generation DNA sequencing data

@article{DePristo2011AFF,
  title={A framework for variation discovery and genotyping using next-generation DNA sequencing data},
  author={M. A. DePristo and Eric Banks and R. E. Poplin and K. V. Garimella and J. Maguire and Christopher Hartl and A. A. Philippakis and Guillermo Del Angel and M. Rivas and Megan Hanna and Aaron McKenna and T. J. Fennell and A. M. Kernytsky and A. Y. Sivachenko and Kristian Cibulskis and S. B. Gabriel and David M Altshuler and M. J. Daly},
  journal={Nature genetics},
  year={2011},
  volume={43},
  pages={491 - 498}
}
  • M.A. DePristo, Eric Banks, +15 authors M. J. Daly
  • Published 2011
  • Biology, Medicine
  • Nature genetics
  • Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution. [...] Key Result Our process includes (i) initial read mapping; (ii) local realignment around indels; (iii) base quality score recalibration; (iv) SNP discovery and genotyping to find all potential variants; and (v) machine learning to separate true segregating variation from machine artifacts common to next…Expand Abstract

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