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TY - JOUR AU - Ng, Sarah B. AU - Turner, Emily H. AU - Robertson, Peggy D. AU - Flygare, Steven D. AU - Bigham, Abigail W. AU - Lee, Choli AU - Shaffer, Tristan AU - Wong, Michelle AU - Bhattacharjee, Arindam AU - Eichler, Evan E. AU - Bamshad, Michael AU - Nickerson, Deborah A. AU - Shendure, Jay PY - 2009 DA - 2009/09/01 TI - Targeted capture and massively parallel sequencing of 12 human exomes JO - Nature SP - 272 EP - 276 VL - 461 IS - 7261 AB - DNA sequencing costs have fallen dramatically in recent years, but they are still too high for whole-genome sequencing to be used routinely to identify rare and novel variants in large cohorts. Here Ng et al. demonstrate that targeted capture and massively parallel sequencing could be a cost-effective, reproducible, and robust strategy for the sensitive and specific identification of variants causing protein-coding changes in individual human genomes. Using this 'second generation' approach to sequencing they determine 307 megabases across the exomes (the protein-coding regions of the genome) of 12 individuals. Freeman–Sheldon syndrome is used as a proof-of-concept to show that candidate genes for monogenic disorders can be identified by exome sequencing of a small number of unrelated, affected individuals. SN - 1476-4687 UR - https://doi.org/10.1038/nature08250 DO - 10.1038/nature08250 ID - Ng2009 ER -