Computational approaches for predicting variant impact: An overview from resources, principles to applications.

ABSTRACT: One objective of human genetics is to unveil the variants that contribute to human diseases. With the rapid development and wide use of next-generation sequencing (NGS), massive genomic sequence data have been created, making personal genetic information available. Conventional experimental evidence is critical in establishing the relationship between sequence variants and phenotype but with low efficiency. Due to the lack of comprehensive databases and resources which present clinical and experimental evidence on genotype-phenotype relationship, as well as accumulating variants found from NGS, different computational tools that can predict the impact of the variants on phenotype have been greatly developed to bridge the gap. In this review, we present a brief introduction and discussion a

SUBMITTER: Liu Y 

PROVIDER: S-EPMC9559863 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature