A Proteomic Variant Approach (ProVarA) for Personalized Medicine of Inherited and Somatic Disease.

ABSTRACT: The advent of precision medicine for genetic diseases has been hampered by the large number of variants that cause familial and somatic disease, a complexity that is further confounded by the impact of genetic modifiers. To begin to understand differences in onset, progression and therapeutic response that exist among disease-causing variants, we present the proteomic variant approach (ProVarA), a proteomic method that integrates mass spectrometry with genomic tools to dissect the etiology of disease. To illustrate its value, we examined the impact of variation in cystic fibrosis (CF), where 2025 disease-associated mutations in the CF transmembrane conductance regulator (CFTR) gene have been annotated and where individual genotypes exhibit phenotypic heterogeneity and response to therapeut

SUBMITTER: Hutt DM 

PROVIDER: S-EPMC6097907 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature