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Analysis of protein-coding genetic variation in 60,706 humans
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Monkol Lek; Konrad J. Karczewski; Eric Vallabh Minikel; Kaitlin E. Samocha; Eric Banks; Timothy R. Fennell; Anne O’Donnell‐Luria; James S. Ware · Nature · 2016
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-...
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