We present an approximate conditional and joint association analysis that can use summary-
level statistics from a meta-analysis of genome-wide association studies (GWAS) and …

Human-disease etiology can be better understood with phase information about diploid
sequences. We present a method for estimating haplotypes, using genotype data from …

Idiopathic pulmonary fibrosis (IPF) is an age-related disease featuring progressive lung
scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of …

As a first step toward understanding how rare variants contribute to risk for complex
diseases, we sequenced 15,585 human protein-coding genes to an average median depth …

Abstract The 1000 Genomes Project aims to provide a deep characterisation of human
genome sequence variation as a foundation for investigating the relationship between …

Imputing genotypes from reference panels created by whole-genome sequencing (WGS)
provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) …

Whereas large-scale efforts have rapidly advanced the understanding and practical impact
of human genomic variation, the practical impact of variation is largely unexplored in the …

Genome sequences are known for two archaic hominins—Neanderthals and Denisovans—
which interbred with anatomically modern humans as they dispersed out of Africa. We …

Genome-wide association studies (GWAS) have long relied on proposed statistical
significance thresholds to be able to differentiate true positives from false positives. Although …

Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed
the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 …