Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine

Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts

(2016) Jörg Hakenberg et al.   BMC BIOINFORMATICS

A New Initiative on Precision Medicine

(2015) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

SimConcept: A Hybrid Approach for Simplifying Composite Named Entities in Biomedical Text

(2015) Chih-Hsuan Wei et al.   IEEE Journal of Biomedical and Health Informatics

Biological Databases for Human Research

(2015) Dong Zou et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

(2014) Maria Livia Famiglietti et al.   HUMAN MUTATION

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Finding your Way ThroughPneumocystisSequences in the NCBI Gene Database

(2014) Christiane Weissenbacher-Lang et al.   JOURNAL OF EUKARYOTIC MICROBIOLOGY

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Literature mining of genetic variants for curation: quantifying the importance of supplementary material

(2014) A. Jimeno Yepes et al.   Database-The Journal of Biological Databases and Curation

Associating disease-related genetic variants in intergenic regions to the genes they impact

(2014) Geoff Macintyre et al.   PeerJ

DNorm: disease name normalization with pairwise learning to rank

(2013) R. Leaman et al.   BIOINFORMATICS

Annotating the biomedical literature for the human variome

(2013) K. Verspoor et al.   Database-The Journal of Biological Databases and Curation

A SNPshot of PubMed to associate genetic variants with drugs, diseases, and adverse reactions

(2012) Jörg Hakenberg et al.   JOURNAL OF BIOMEDICAL INFORMATICS

SR4GN: A Species Recognition Software Tool for Gene Normalization

(2012) Chih-Hsuan Wei et al.   PLoS One

Cross-species gene normalization by species inference

(2011) Chih-Hsuan Wei et al.   BMC BIOINFORMATICS

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

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

EnzyMiner: automatic identification of protein level mutations and their impact on target enzymes from PubMed abstracts

(2009) Süveyda Yeniterzi et al.   BMC BIOINFORMATICS

Abbreviation definition identification based on automatic precision estimates

(2008) Sunghwan Sohn et al.   BMC BIOINFORMATICS

Facts from text: can text mining help to scale-up high-quality manual curation of gene products with ontologies?

(2008) R. Winnenburg et al.   BRIEFINGS IN BIOINFORMATICS