Integrating molecular networks with genetic variant interpretation for precision medicine.

ABSTRACT: More reliable and cheaper sequencing technologies have revealed the vast mutational landscapes characteristic of many phenotypes. The analysis of such genetic variants has led to successful identification of altered proteins underlying many Mendelian disorders. Nevertheless the simple one-variant one-phenotype model valid for many monogenic diseases does not capture the complexity of polygenic traits and disorders. Although experimental and computational approaches have improved detection of functionally deleterious variants and important interactions between gene products, the development of comprehensive models relating genotype and phenotypes remains a challenge in the field of genomic medicine. In this context, a new view of the pathologic state as significant perturbation of the netwo

SUBMITTER: Capriotti E 

PROVIDER: S-EPMC6450710 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature