Ontology highlight
ABSTRACT:
SUBMITTER: Beer MA
PROVIDER: S-EPMC5526747 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Human mutation 20170315 9
We participated in the Critical Assessment of Genome Interpretation eQTL challenge to further test computational models of regulatory variant impact and their association with human disease. Our prediction model is based on a discriminative gapped-kmer SVM (gkm-SVM) trained on genome-wide chromatin accessibility data in the cell type of interest. The comparisons with massively parallel reporter assays (MPRA) in lymphoblasts show that gkm-SVM is among the most accurate prediction models even thou ...[more]