Rapid Discovery of De Novo Deleterious Mutations in Cattle Using Genome Sequence Data: Enhancing the Value of Farm Animals as Model Species. RM695Trio

In humans, the clinical and molecular characterizations of sporadic syndromes are often hindered by the small number of patients and the difficulty to develop animal models for severe dominant conditions. Here we show that the availability of large data sets of whole-genome sequences, high-density SNP chips genotypes and phenotypic records offers unprecedented opportunity to dissect in record time the genetic architecture of phenotypes in livestock.