Targeted capture and massively parallel sequencing of 12 human exomes

@inproceedings{Ng2009TargetedCA,
  title={Targeted capture and massively parallel sequencing of 12 human exomes},
  author={Sarah Boonhsi Ng and Emily H Turner and Peggy D. Robertson and Steven Flygare and Abigail W. Bigham and Choli Lee and Tristan Shaffer and Michelle Wong and Arindam Bhattacharjee and Evan E. Eichler and Michael Bamshad and Deborah A. Nickerson and Jay Shendure},
  year={2009}
}
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common diseases, raising the question of whether rare variants account for a significant fraction of unexplained heritability. Although DNA sequencing costs have fallen markedly, they remain far from what is necessary for rare and novel variants to be routinely identified at a genome-wide scale in large cohorts. We have therefore sought to develop second-generation methods… CONTINUE READING

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