Status of Research on Insertion and Deletion Variations in the Human Population
Insertion and deletion (indel) variants comprise a major proportion of human genetic variation. However, little is known about their effect on humans. The void of understanding is largely due to the lack of both biological data and computational resources. Thanks to the progress made by many large-scale genomic projects, a substantial amount of data is now available, enabling the prediction of functional elements in the genome. In this work, we review the impact of indel variants on human biology, evolution, and health, and examine the currently available computational resources for predicting the functional effects of indels and their limitations. We then present a newly developed program for indel effect prediction using a hidden Markov model-based framework and discuss future work for better understanding the effects of indel variants on human biology and health.
KeywordsHuman Biology Indel Variant Indel Effect Profile HMMs Homology Hypothesis
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