Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Meta-analysis of Correlated Traits via Summary Statistics from GWASs with an Application in Hypertension

(2015) Xiaofeng Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

(2015) Fabrice Danjou et al.   NATURE GENETICS

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

(2015) Carlo Sidore et al.   NATURE GENETICS

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

(2015) Jie Huang et al.   Nature Communications

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

(2014) Andrew R Wood et al.   NATURE GENETICS

Efficient multivariate linear mixed model algorithms for genome-wide association studies

(2014) Xiang Zhou et al.   NATURE METHODS

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

(2014) Kalliope Panoutsopoulou et al.   Nature Communications

The OSR1 rs12329305 Polymorphism Contributes to the Development of Congenital Malformations in Cases of Stillborn/Neonatal Death

(2014) Tatijana Zemunik   MEDICAL SCIENCE MONITOR

Genetic determinants of haemolysis in sickle cell anaemia

(2013) Jacqueline N. Milton et al.   BRITISH JOURNAL OF HAEMATOLOGY

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

(2013) Ioanna Tachmazidou et al.   Nature Communications

zCall: a rare variant caller for array-based genotyping

(2012) Jacqueline I. Goldstein et al.   BIOINFORMATICS

HbA2levels in normal adults are influenced by two distinct genetic mechanisms

(2012) Stephan Menzel et al.   BRITISH JOURNAL OF HAEMATOLOGY

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Seventy-five genetic loci influencing the human red blood cell

(2012) Pim van der Harst et al.   NATURE

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

(2012)   NATURE

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

(2012) Robert A Scott et al.   NATURE GENETICS

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

(2012) Alisa K Manning et al.   NATURE GENETICS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets

(2011) Miao-Xin Li et al.   HUMAN GENETICS

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

Meta-Analysis of Genome-wide Association Studies with Overlapping Subjects

(2009) Dan-Yu Lin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

(2009) Manit Nuinoon et al.   HUMAN GENETICS

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) T. I. Pollin et al.   SCIENCE