Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

(2017) Zornitza Stark et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

(2017) Jessica J Y Lee et al.   GENETICS IN MEDICINE

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data

(2017) Yi-Fei Huang et al.   NATURE GENETICS

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Modeling gene regulation from paired expression and chromatin accessibility data

(2017) Zhana Duren et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

(2016) Damian Smedley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

(2016) Christopher J. Mungall et al.   NUCLEIC ACIDS RESEARCH

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

(2015) William P. Bone et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Phen-Gen: combining phenotype and genotype to analyze rare disorders

(2014) Asif Javed et al.   NATURE METHODS

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

eXtasy: variant prioritization by genomic data fusion

(2013) Alejandro Sifrim et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS