The human gene damage index as a gene-level approach to prioritizing exome variants

The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome

(2015) Erin L. Heinzen et al.   Annual Review of Neuroscience

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Recombination affects accumulation of damaging and disease-associated mutations in human populations

(2015) Julie G Hussin et al.   NATURE GENETICS

Haplotype-resolved genome sequencing: experimental methods and applications

(2015) Matthew W. Snyder et al.   NATURE REVIEWS GENETICS

Can the impact of human genetic variations be predicted?

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comparison of predicted and actual consequences of missense mutations

(2015) Lisa A. Miosge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel Primary Immunodeficiency Candidate Genes Predicted by the Human Gene Connectome

(2015) Yuval Itan et al.   Frontiers in Immunology

Discovery of single-gene inborn errors of immunity by next generation sequencing

(2014) Mary Ellen Conley et al.   CURRENT OPINION IN IMMUNOLOGY

A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection

(2014) K. J. Siddle et al.   GENOME RESEARCH

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2014) Martin Kircher et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases

(2014) Xiaolin Zhu et al.   NATURE NEUROSCIENCE

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Transcriptome Sequencing from Diverse Human Populations Reveals Differentiated Regulatory Architecture

(2014) Alicia R. Martin et al.   PLoS Genetics

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

(2014) Waleed Al-Herz et al.   Frontiers in Immunology

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

The human gene connectome as a map of short cuts for morbid allele discovery

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

(2013) A. Bolze et al.   SCIENCE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

pROC: an open-source package for R and S+ to analyze and compare ROC curves

(2011) Xavier Robin et al.   BMC BIOINFORMATICS

Evolution and disorder

(2011) Celeste J Brown et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Evolutionary genetic dissection of human interferons

(2011) Jérémy Manry et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Non-coding RNAs in human disease

(2011) Manel Esteller   NATURE REVIEWS GENETICS

KEGG for integration and interpretation of large-scale molecular data sets

(2011) M. Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Detecting Gene Duplications in the Human Lineage

(2010) Yuval Itan et al.   ANNALS OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Profiling by Image Registration Reveals Common Origin of Annelid Mushroom Bodies and Vertebrate Pallium

(2010) Raju Tomer et al.   CELL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Estimation of the Neutrality Index

(2010) N. Stoletzki et al.   MOLECULAR BIOLOGY AND EVOLUTION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Integrative Modeling Defines the Nova Splicing-Regulatory Network and Its Combinatorial Controls

(2010) C. Zhang et al.   SCIENCE

Biopython: freely available Python tools for computational molecular biology and bioinformatics

(2009) P. J. A. Cock et al.   BIOINFORMATICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

BioMart Central Portal—unified access to biological data

(2009) Syed Haider et al.   NUCLEIC ACIDS RESEARCH