Annotating the biomedical literature for the human variome

An overview of MetaMap: historical perspective and recent advances

(2014) Alan R Aronson et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Text Mining Improves Prediction of Protein Functional Sites

(2012) Karin M. Verspoor et al.   PLoS One

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations

(2011) Mark Y. Tong et al.   BIOINFORMATICS

HIGH-PRECISION BIOLOGICAL EVENT EXTRACTION: EFFECTS OF SYSTEM AND OF DATA

(2011) K. Bretonnel Cohen et al.   COMPUTATIONAL INTELLIGENCE

Curating gene variant databases (LSDBs): Toward a universal standard

(2011) Jacopo Celli et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Large-scale automated synthesis of human functional neuroimaging data

(2011) Tal Yarkoni et al.   NATURE METHODS

Toward an automatic method for extracting cancer- and other disease-related point mutations from the biomedical literature

(2010) Emily Doughty et al.   BIOINFORMATICS

Algorithms and semantic infrastructure for mutation impact extraction and grounding

(2010) Jonas B Laurila et al.   BMC GENOMICS

Novel tools for extraction and validation of disease-related mutations applied to fabry disease

(2010) Remko Kuipers et al.   HUMAN MUTATION

The textual characteristics of traditional and Open Access scientific journals are similar

(2009) Karin Verspoor et al.   BMC BIOINFORMATICS

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

(2009) HT Lynch et al.   CLINICAL GENETICS

Natural Language Processing in aid of FlyBase curators

(2008) Nikiforos Karamanis et al.   BMC BIOINFORMATICS

A database to support the interpretation of human mismatch repair gene variants

(2008) Jianghua Ou et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION