HIPred: an integrative approach to predicting haploinsufficient genes.

ABSTRACT:

Motivation

A major cause of autosomal dominant disease is haploinsufficiency, whereby a single copy of a gene is not sufficient to maintain the normal function of the gene. A large proportion of existing methods for predicting haploinsufficiency incorporate biological networks, e.g. protein-protein interaction networks that have recently been shown to introduce study bias. As a result, these methods tend to perform best on well-studied genes, but underperform on less studied genes. The advent of large genome sequencing consortia, such as the 1000 genomes project, NHLBI Exome Sequencing Project and the Exome Aggregation Consortium creates an urgent need for unbiased haploinsufficiency prediction methods.

Results

Here, we describe a machine learning approach, called HIPred, th

SUBMITTER: Shihab HA 

PROVIDER: S-EPMC5581952 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature