Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Exome sequencing a review of new strategies for rare genomic disease research

(2016) Tony L. Brown et al.   GENOMICS

#IAmAResearchParasite

(2016) M. McNutt   SCIENCE

The Precision Medicine Initiative

(2015) Euan A. Ashley   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

(2015) Hui Yang et al.   NATURE METHODS

PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants

(2015) Abhishek Niroula et al.   PLoS One

Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans

(2014) R. Daneshjou et al.   BLOOD

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

(2013) David Ellinghaus et al.   GASTROENTEROLOGY

Genetics of bipolar disorder

(2013) Nick Craddock et al.   LANCET

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Critical assessment of methods of protein structure prediction (CASP) - round x

(2013) John Moult et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Bioinformatics challenges for personalized medicine

(2011) Guy Haskin Fernald et al.   BIOINFORMATICS

Recent progress in anticoagulant therapy: oral direct inhibitors of thrombin and factor Xa

(2011) K. A. BAUER   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Emergency Hospitalizations for Adverse Drug Events in Older Americans

(2011) Daniel S. Budnitz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

New approaches to population stratification in genome-wide association studies

(2010) Alkes L. Price et al.   NATURE REVIEWS GENETICS

Genome-wide association studies in diverse populations

(2010) Noah A. Rosenberg et al.   NATURE REVIEWS GENETICS

The Genetic Interpretation of Area under the ROC Curve in Genomic Profiling

(2010) Naomi R. Wray et al.   PLoS Genetics

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

The Unreasonable Effectiveness of Data

(2009) Alon Halevy et al.   IEEE INTELLIGENT SYSTEMS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data

(2009)   NEW ENGLAND JOURNAL OF MEDICINE

Overview of BioCreative II gene normalization

(2008) Alexander A Morgan et al.   GENOME BIOLOGY