Article
Disease insights through cross-species phenotype comparisons.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Oct 2015
Haendel Melissa A, Vasilevsky Nicole, Brush Matthew, Hochheiser Harry S, Jacobsen Julius, Oellrich Anika, Mungall Christopher J, Washington Nicole, Köhler Sebastian, Lewis Suzanna E, Robinson Peter N, Smedley Damian
Abstract excerpt
New sequencing technologies have ushered in a new era for diagnosis and discovery of new causative mutations for rare diseases. However, the sheer numbers of candidate variants that require interpretation in an exome or genomic analysis are still a challenging prospect. A powerful approach is the comparison of the patient's set of phenotypes (phenotypic profile) to known phenotypic profiles caused by mutations in...
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