title: Modeling diseases in multiple mouse strains for precision medicine studies.
abstract: The genetic basis of the phenotypic variability observed in patients can be studied in mice by generating disease models through genetic or chemical interventions in many genetic backgrounds where the clinical phenotypes can be assessed and used for genome-wide association studies (GWAS). This is particularly relevant for rare disorders, where patients sharing identical mutations can present with a wide variety of symptoms, but there are not enough number of patients to ensure statistical power of GWAS. Inbred strains are homozygous for each loci, and their single nucleotide polymorphisms catalogs are known and freely available, facilitating the bioinformatics and reducing the costs of the study, since it is not required to genotype every mouse. This kind of approach can be applied to pharmacogenomics studies as well.
authors.affiliation: Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy a.klein@tigem.it.
authors.forename: Andrés D
authors.identifier: 0000-0002-9951-2174
authors.initials: AD
authors.lastname: Klein
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D004195:Disease Models, Animal; D006801:Humans; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D057285:Precision Medicine
keywords: GWAS; inbred mouse strains; precision medicine