Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

(2019) David Bick et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

(2019) Jason Flannick et al.   NATURE

trackViewer: a Bioconductor package for interactive and integrative visualization of multi-omics data

(2019) Jianhong Ou et al.   NATURE METHODS

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

(2019) Annelot M. Dekker et al.   Scientific Reports

An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome

(2019) Tom G Richardson et al.   eLife

Reanalysis of Clinical Exome Sequencing Data

(2019) Pengfei Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

(2019) Katherine I. Kendig et al.   Frontiers in Genetics

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

(2018) Petra Liskova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

(2018) Yoon J. Jang et al.   HUMAN MUTATION

Mixed-model association for biobank-scale datasets

(2018) Po-Ru Loh et al.   NATURE GENETICS

Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate

(2018) Anne Ruiz et al.   Frontiers in Physiology

Developmental SMAD6 loss leads to blood vessel hemorrhage and disrupted endothelial cell junctions

(2018) Lyndsay A. Wylie et al.   DEVELOPMENTAL BIOLOGY

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

(2018) Allison A. Regier et al.   Nature Communications

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

The Pfam protein families database in 2019

(2018) Sara El-Gebali et al.   NUCLEIC ACIDS RESEARCH

Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank

(2017) Louise AC Millard et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

(2017) Tao Long et al.   NATURE GENETICS

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

(2016) Jan Verheijen et al.   ACTA NEUROPATHOLOGICA

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

(2016) Linda M. Polfus et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

(2016) Chunyu Liu et al.   NATURE GENETICS

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease

(2016) Paul Nioi et al.   NEW ENGLAND JOURNAL OF MEDICINE

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation

(2015) T. Moroy et al.   BLOOD

Phenome-wide analysis of genome-wide polygenic scores

(2015) E Krapohl et al.   MOLECULAR PSYCHIATRY

Next-generation diagnostics and disease-gene discovery with the Exomiser

(2015) Damian Smedley et al.   Nature Protocols

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

Advantages and pitfalls in the application of mixed-model association methods

(2014) Jian Yang et al.   NATURE GENETICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1

(2012) E. E. Kenny et al.   SCIENCE

A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans

(2011) Qianqian Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS