Breast cancer is the commonest cause of cancer death in women worldwide. Rates vary
about five-fold around the world, but they are increasing in regions that until recently had low …

THE LANCET• Vol 360• September 21, 2002• www. thelancet. com 943 biased. Many
commentators had argued that the lower rates of coronary heart disease among HRT users …

… e‐cigarette use with poisoning, immediate inhalation toxicity (including seizures), and e‐…
but not exclusively for e‐liquids containing tetrahydrocannabinol and vitamin E acetate), as well …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the function …

The variant call format (VCF) is a generic format for storing DNA polymorphism data such as
SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is …

Background Overweight and obesity are increasing worldwide. To help assess their
relevance to mortality in different populations we conducted individual-participant data meta-…

Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …

… (c–e) Quality tranches in the recalibrated HiSeq (c), exome (d) and low-pass CEU (e) calls
beginning with (top) the highest quality but smallest call set with an estimated false positive …

Next-generation DNA sequencing (NGS) projects, such as the 1000 Genomes Project, are
already revolutionizing our understanding of genetic variation among individuals. However, …