Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

(2016) A. Sekiya et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

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

(2016) Monkol Lek et al.   NATURE

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

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

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

Association of Rare Loss-Of-Function Alleles inHAL, Serum HistidineCLINICAL PERSPECTIVE

(2015) Bing Yu et al.   Circulation-Cardiovascular Genetics

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

Human knockout research: new horizons and opportunities

(2015) Fowzan S. Alkuraya   TRENDS IN GENETICS

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Association of Rare Loss-Of-Function Alleles inHAL, Serum HistidineCLINICAL PERSPECTIVE

(2015) Bing Yu et al.   Circulation-Cardiovascular Genetics

Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

(2014) Holly K. Tabor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion

(2014) M. Bhuvanagiri et al.   EMBO Molecular Medicine

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

(2014) Jason Flannick et al.   NATURE GENETICS

A 52-Week Placebo-Controlled Trial of Evolocumab in Hyperlipidemia

(2014) Dirk J. Blom et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

SMART: recent updates, new developments and status in 2015

(2014) Ivica Letunic et al.   NUCLEIC ACIDS RESEARCH

Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

(2014) Antonio Rausell et al.   PLoS Computational Biology

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle

(2013) Yu Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

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

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Pfam: the protein families database

(2013) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

(2013) Ekta Khurana et al.   SCIENCE

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

Model-based identification of drug targets that revert disrupted metabolism and its application to ageing

(2013) Keren Yizhak et al.   Nature Communications

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

(2012) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment

(2012) Lukas Habegger et al.   BIOINFORMATICS

An informatics approach to analyzing the incidentalome

(2012) Jonathan S. Berg et al.   GENETICS IN MEDICINE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

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

(2012)   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Effect of a Monoclonal Antibody to PCSK9 on LDL Cholesterol

(2012) Evan A. Stein et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Disease-Associated Mutations Disrupt Functionally Important Regions of Intrinsic Protein Disorder

(2012) Vladimir Vacic et al.   PLoS Computational Biology

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

The GENCODE pseudogene resource

(2012) Baikang Pei et al.   GENOME BIOLOGY

Gene inactivation and its implications for annotation in the era of personal genomics

(2011) S. Balasubramanian et al.   GENES & DEVELOPMENT

miRWalk – Database: Prediction of possible miRNA binding sites by “walking” the genes of three genomes

(2011) Harsh Dweep et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

PhosphoSitePlus: a comprehensive resource for investigating the structure and function of experimentally determined post-translational modifications in man and mouse

(2011) P. V. Hornbeck et al.   NUCLEIC ACIDS RESEARCH

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

(2010) David N. Cooper et al.   HUMAN MUTATION

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Next generation tools for the annotation of human SNPs

(2009) Rachel Karchin   BRIEFINGS IN BIOINFORMATICS

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE