Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem 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

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

(2014) ChangJiang Xu et al.   GENETIC EPIDEMIOLOGY

Osteoblast-derived WNT16 represses osteoclastogenesis and prevents cortical bone fragility fractures

(2014) Sofia Movérare-Skrtic et al.   NATURE MEDICINE

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

A large-scale screen for coding variants predisposing to psoriasis

(2013) Huayang Tang et al.   NATURE GENETICS

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

(2012)   NATURE

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

(2012) Karol Estrada et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

Genetics of osteoporosis from genome-wide association studies: advances and challenges

(2012) J. Brent Richards et al.   NATURE REVIEWS GENETICS

The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals

(2012) Martin Ladouceur et al.   PLoS Genetics

Meta-Analysis of Genome-Wide Scans for Total Body BMD in Children and Adults Reveals Allelic Heterogeneity and Age-Specific Effects at the WNT16 Locus

(2012) Carolina Medina-Gomez et al.   PLoS Genetics

WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk

(2012) Hou-Feng Zheng et al.   PLoS 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

Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk

(2011) Emma L. Duncan et al.   PLoS Genetics

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

(2010) William McLaren et al.   BIOINFORMATICS

GWAMA: software for genome-wide association meta-analysis

(2010) Reedik Mägi et al.   BMC BIOINFORMATICS

Mouse BMD quantitative trait loci show improved concordance with human genome-wide association loci when recalculated on a new, common mouse genetic map

(2010) Cheryl L Ackert-Bicknell et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women

(2010) Daniel L. Koller et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups

(2009) Dong-Hai Xiong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

(2009) Fernando Rivadeneira et al.   NATURE GENETICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study

(2008) JB Richards et al.   LANCET

New sequence variants associated with bone mineral density

(2008) Unnur Styrkarsdottir et al.   NATURE GENETICS

Multiple Genetic Loci for Bone Mineral Density and Fractures

(2008) Unnur Styrkarsdottir et al.   NEW ENGLAND JOURNAL OF MEDICINE