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

@inproceedings{DePristo2011AFF,
  title={A framework for variation discovery and genotyping using next-generation DNA sequencing data},
  author={M. A. DePristo and Eric D. Banks and R. E. Poplin and K. V. Garimella and J. R. Maguire and Christopher Hartl and A. A. Philippakis and Guillermo Del Angel and M. A Rivas and Megan C. Hanna and Aaron McKenna and T. Fennell and A. M. Kernytsky and A. Y. Sivachenko and Kristian Cibulskis and S B Gabriel and David M Altshuler and M J Daly},
  booktitle={Nature Genetics},
  year={2011}
}
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. The amounts of raw data produced are prodigious, and many computational steps are required to translate this output into high-quality variant calls. We present a unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and… CONTINUE READING
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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

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  • Nature
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