DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning.

ABSTRACT: Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect the functions of genomic regions in different ways from single nucleotide variants. Interpreting the phenotypic consequences of structural variants relies on information about gene functions, haploinsufficiency or triplosensitivity, and other genomic features. Phenotype-based methods to identifying variants that are involved in genetic diseases combine molecular features with prior knowledge about the phenotypic consequences of altering gene functions. While phenotype-based methods have been applied successfully to single nucleotide variants as well as short insertions and deletions, the complexity

SUBMITTER: Althagafi A 

PROVIDER: S-EPMC8896633 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature