Characterizing rare and low-frequency height-associated variants in the Japanese population

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases

(2018) Masahiro Kanai et al.   NATURE GENETICS

Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese

(2018) Yukinori Okada et al.   Nature Communications

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

Overview of the BioBank Japan Project: Study design and profile

(2017) Akiko Nagai et al.   JOURNAL OF EPIDEMIOLOGY

Cross-sectional analysis of BioBank Japan clinical data: A large cohort of 200,000 patients with 47 common diseases

(2017) Makoto Hirata et al.   JOURNAL OF EPIDEMIOLOGY

Rare and low-frequency coding variants alter human adult height

(2017) Eirini Marouli et al.   NATURE

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population

(2017) Masato Akiyama et al.   NATURE GENETICS

Fast and accurate long-range phasing in a UK Biobank cohort

(2016) Po-Ru Loh et al.   NATURE GENETICS

Epigenetic and genetic components of height regulation

(2016) Stefania Benonisdottir et al.   Nature Communications

Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics

(2016) David Lamparter et al.   PLoS Computational Biology

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Height-reducing variants and selection for short stature in Sardinia

(2015) Magdalena Zoledziewska et al.   NATURE GENETICS

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

(2015) Jian Yang et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

The Pfam protein families database: towards a more sustainable future

(2015) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

Biological interpretation of genome-wide association studies using predicted gene functions

(2015) Tune H. Pers et al.   Nature Communications

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

(2015) Jie Huang et al.   Nature Communications

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci

(2014) Meian He et al.   HUMAN MOLECULAR 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

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

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence of widespread selection on standing variation in Europe at height-associated SNPs

(2012) Michael C Turchin 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

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

(2011) Kathrin Laue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

(2010) Yun Li et al.   GENETIC EPIDEMIOLOGY

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

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

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

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