Exploring the dark genome: implications for precision medicine

Novel drug targets in 2018

(2019) Oleg Ursu et al.   NATURE REVIEWS DRUG DISCOVERY

A Human(e) Factor in Clinical Decision Support Systems

(2019) Tim Bezemer et al.   JOURNAL OF MEDICAL INTERNET RESEARCH

Recessive mutations in >VPS13D cause childhood onset movement disorders

(2018) Julie Gauthier et al.   ANNALS OF NEUROLOGY

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

(2018) Eunju Seong et al.   ANNALS OF NEUROLOGY

Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance

(2018) Allyson L. Anding et al.   CURRENT BIOLOGY

Unexplored therapeutic opportunities in the human genome

(2018) Tudor I. Oprea et al.   NATURE REVIEWS DRUG DISCOVERY

Glimmers in illuminating the druggable genome

(2018) Griffin Rodgers et al.   NATURE REVIEWS DRUG DISCOVERY

Pediatric Dilated Cardiomyopathy‐Associated LRRC10 (Leucine‐Rich Repeat–Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L‐Type Ca 2+ Channels

(2018) Marites T. Woon et al.   Journal of the American Heart Association

Large-scale investigation of the reasons why potentially important genes are ignored

(2018) Thomas Stoeger et al.   PLOS BIOLOGY

Big data hurdles in precision medicine and precision public health

(2018) Mattia Prosperi et al.   BMC Medical Informatics and Decision Making

DrugCentral 2018: an update

(2018) Oleg Ursu et al.   NUCLEIC ACIDS RESEARCH

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Far away from the lamppost

(2018) Tudor I. Oprea et al.   PLOS BIOLOGY

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

(2017) Lorraine Southam et al.   Nature Communications

Drug target ontology to classify and integrate drug discovery data

(2017) Yu Lin et al.   Journal of Biomedical Semantics

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease

(2017) Pim van der Harst et al.   CIRCULATION RESEARCH

Drug Development of Therapeutic Monoclonal Antibodies

(2016) Diane R. Mould et al.   BIODRUGS

Navigating the Phenotype Frontier: The Monarch Initiative

(2016) Julie A. McMurry et al.   GENETICS

A comprehensive map of molecular drug targets

(2016) Rita Santos et al.   NATURE REVIEWS DRUG DISCOVERY

Pharos: Collating protein information to shed light on the druggable genome

(2016) Dac-Trung Nguyen et al.   NUCLEIC ACIDS RESEARCH

Open Targets: a platform for therapeutic target identification and validation

(2016) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

The ChEMBL database in 2017

(2016) Anna Gaulton et al.   NUCLEIC ACIDS RESEARCH

DrugCentral: online drug compendium

(2016) Oleg Ursu et al.   NUCLEIC ACIDS RESEARCH

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins

(2016) Andrew D. Rouillard et al.   Database-The Journal of Biological Databases and Curation

Network motifs modulate druggability of cellular targets

(2016) Fan Wu et al.   Scientific Reports

Navigating the Phenotype Frontier: The Monarch Initiative

(2016) Julie A. McMurry et al.   GENETICS

DISEASES: Text mining and data integration of disease–gene associations

(2015) Sune Pletscher-Frankild et al.   METHODS

A New Initiative on Precision Medicine

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

The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands

(2015) Christopher Southan et al.   NUCLEIC ACIDS RESEARCH

Current approaches to fine mapping of antigen-antibody interactions

(2014) W. Mark Abbott et al.   IMMUNOLOGY

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

(2014) Warren A. Kibbe et al.   NUCLEIC ACIDS RESEARCH

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

Functionally Enigmatic Genes: A Case Study of the Brain Ignorome

(2014) Ashutosh K. Pandey et al.   PLoS One

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures

(2014) Naoko H. Tomioka et al.   Nature Communications

Cardioprotective functions of HDLs

(2013) Kerry-Anne Rye et al.   JOURNAL OF LIPID RESEARCH

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

(2013) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

The SPECIES and ORGANISMS Resources for Fast and Accurate Identification of Taxonomic Names in Text

(2013) Evangelos Pafilis et al.   PLoS One

Mutation of Elfn1 in Mice Causes Seizures and Hyperactivity

(2013) Jackie Dolan et al.   PLoS One

Structural Biology and Drug Discovery of Difficult Targets: The Limits of Ligandability

(2012) Sachin Surade et al.   CHEMISTRY & BIOLOGY

Characterization of epitopes recognized by monoclonal antibodies: experimental approaches supported by freely accessible bioinformatic tools

(2012) Nicola Clementi et al.   DRUG DISCOVERY TODAY

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Too many roads not taken

(2011) Aled M. Edwards et al.   NATURE

Antibodypedia

(2008) Veronique Kiermer   NATURE METHODS

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

(2008) J. Amberger et al.   NUCLEIC ACIDS RESEARCH