Predicting the combined effect of multiple genetic variants.

ABSTRACT:

Background

Many genetic variants have been identified in the human genome. The functional effects of a single variant have been intensively studied. However, the joint effects of multiple variants in the same genes have been largely ignored due to their complexity or lack of data. This paper uses HMMvar, a hidden Markov model based approach, to investigate the combined effect of multiple variants from the 1000 Genomes Project. Two tumor suppressor genes, TP53 and phosphatase and tensin homolog (PTEN), are also studied for the joint effect of compensatory indel variants.

Results

Results show that there are cases where the joint effect of having multiple variants in the same genes is significantly different from that of a single variant. The deleterious effect of a single inde

SUBMITTER: Liu M 

PROVIDER: S-EPMC4520001 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature