Reports from CAGI: The Critical Assessment of Genome Interpretation

Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I

(2017) Jing Zhang et al.   HUMAN MUTATION

Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges

(2017) Vikas Pejaver et al.   HUMAN MUTATION

Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge

(2017) Kunal Kundu et al.   HUMAN MUTATION

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges

(2017) Binghuang Cai et al.   HUMAN MUTATION

Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests

(2017) Panagiotis Katsonis et al.   HUMAN MUTATION

Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4

(2017) Qifang Xu et al.   HUMAN MUTATION

CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease

(2017) Lipika R. Pal et al.   HUMAN MUTATION

CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants

(2017) Lipika R. Pal et al.   HUMAN MUTATION

DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learning

(2017) Sundaram Laksshman et al.   HUMAN MUTATION

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

(2017) Roxana Daneshjou et al.   HUMAN MUTATION

Crohn disease risk prediction-Best practices and pitfalls with exome data

(2017) Manuel Giollo et al.   HUMAN MUTATION

Predicting enhancer activity and variant impact using gkm-SVM

(2017) Michael A. Beer   HUMAN MUTATION

Blind prediction of deleterious amino acid variations with SNPs&GO

(2017) Emidio Capriotti et al.   HUMAN MUTATION

Accurate eQTL prioritization with an ensemble-based framework

(2017) Haoyang Zeng et al.   HUMAN MUTATION

PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned

(2017) Abhishek Niroula et al.   HUMAN MUTATION

Stratified polygenic risk prediction model with application to CAGI bipolar disorder sequencing data

(2017) Maggie Haitian Wang et al.   HUMAN MUTATION

Lessons from the CAGI-4 Hopkins clinical panel challenge

(2017) John-Marc Chandonia et al.   HUMAN MUTATION

Whole-protein alanine-scanning mutagenesis of allostery: A large percentage of a protein can contribute to mechanism

(2017) Qingling Tang et al.   HUMAN MUTATION

Exploring the limits of the usefulness of mutagenesis in studies of allosteric mechanisms

(2017) Qingling Tang et al.   HUMAN MUTATION

Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges

(2017) Yizhou Yin et al.   HUMAN MUTATION

Predicting gene expression in massively parallel reporter assays: A comparative study

(2017) Anat Kreimer et al.   HUMAN MUTATION

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI

(2017) Marco Carraro et al.   HUMAN MUTATION

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

(2014) R. Daneshjou et al.   BLOOD