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Here we show that the availability of large data sets of whole-genome sequences, high-density SNP chip genotypes and extensive recording of phenotype offers an unprecedented opportunity to quickly dissect the genetic architecture of severe dominant conditions in livestock. We report on the identification of seven dominant\n                    <jats:italic>de novo<\/jats:italic>\n                    mutations in\n                    <jats:italic>CHD7<\/jats:italic>\n                    ,\n                    <jats:italic>COL1A1<\/jats:italic>\n                    ,\n                    <jats:italic>COL2A1<\/jats:italic>\n                    ,\n                    <jats:italic>COPA<\/jats:italic>\n                    , and\n                    <jats:italic>MITF<\/jats:italic>\n                    and exploit the structure of cattle populations to describe their clinical consequences and map modifier loci. Moreover, we demonstrate that the emergence of recessive genetic defects can be monitored by detecting\n                    <jats:italic>de novo<\/jats:italic>\n                    deleterious mutations in the genome of bulls used for artificial insemination. These results demonstrate the attractiveness of cattle as a model species in the post genomic era, particularly to confirm the genetic aetiology of isolated clinical case reports in humans.\n                  <\/jats:p>","DOI":"10.1038\/s41598-017-11523-3","type":"journal-article","created":{"date-parts":[[2017,9,7]],"date-time":"2017-09-07T09:38:49Z","timestamp":1504777129000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":82,"title":["Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model 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