Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm

Rare-Variant Association Analysis: Study Designs and Statistical Tests

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

A Statistical Framework to Guide Sequencing Choices in Pedigrees

(2014) Charles Y.K. Cheung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Martin Kircher et al.   NATURE GENETICS

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

In search of low-frequency and rare variants affecting complex traits

(2013) K. Panoutsopoulou et al.   HUMAN MOLECULAR GENETICS

Count-based differential expression analysis of RNA sequencing data using R and Bioconductor

(2013) Simon Anders et al.   Nature Protocols

Whole Exome Sequencing of Intracranial Aneurysm

(2013) T. Foroud et al.   STROKE

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

(2013) Huiying Zhao et al.   GENOME BIOLOGY

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Utilizing Graph Theory to Select the Largest Set of Unrelated Individuals for Genetic Analysis

(2012) Jeffrey Staples et al.   GENETIC EPIDEMIOLOGY

Unruptured intracranial aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms cohorts: differences in multiplicity and location

(2012) Jason Mackey et al.   JOURNAL OF NEUROSURGERY

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Genome-Wide Association Study of Intracranial Aneurysms Confirms Role of Anril and SOX17 in Disease Risk

(2012) Tatiana Foroud et al.   STROKE

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis

(2011) Monique HM Vlak et al.   LANCET NEUROLOGY

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk

(2011) K. Yasuno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genome-wide association study of intracranial aneurysm identifies three new risk loci

(2010) Katsuhito Yasuno et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Genome screen in familial intracranial aneurysm

(2009) Tatiana Foroud et al.   BMC Medical Genetics

Worldwide stroke incidence and early case fatality reported in 56 population-based studies: a systematic review

(2009) Valery L Feigin et al.   LANCET NEUROLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Greater Rupture Risk for Familial as Compared to Sporadic Unruptured Intracranial Aneurysms

(2009) Joseph P. Broderick et al.   STROKE

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

(2008) Anna Helgadottir et al.   NATURE GENETICS

Susceptibility loci for intracranial aneurysm in European and Japanese populations

(2008) Kaya Bilguvar et al.   NATURE GENETICS

Genetics of Intracranial Aneurysms

(2008) Ynte M. Ruigrok et al.   STROKE

Genome Screen to Detect Linkage to Common Susceptibility Genes for Intracranial and Aortic Aneurysms

(2008) Bradford B. Worrall et al.   STROKE