Borut Peterlin

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Responsible implementation of expanded carrier screening

Lidewij Henneman, Pascal Borry, Davit Chokoshvili et al. · European Journal of Human Genetics · 2016 · 323 citations · Full text

Using literature-based discovery to identify disease candidate genes

Dimitar Hristovski, Borut Peterlin, Joyce A. Mitchell et al. · International Journal of Medical Informatics · 2004 · 274 citations

Functional Genomics, Knowledge Discovery, Disease Candidate Genes +6

Exploiting semantic relations for literature-based discovery.

Dimitar Hristovski, Carol Friedman, Thomas C. Rindflesch et al. · PubMed · 2006 · 165 citations · Full text

Semantic Relations, Engineering, Knowledge Extraction +19

Analysis of blood-based gene expression in idiopathic Parkinson disease

Ron Shamir, Christine Klein, David Amar et al. · Neurology · 2017 · 144 citations · Full text