Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …

We developed a likelihood-based approach for analyzing summary-level statistics and
external linkage disequilibrium information to estimate effect-size distributions of common …

Somatic mutations are an inevitable component of ageing and the most important cause of
cancer. The rates and types of somatic mutation vary across individuals, but relatively few …

Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion
of the heritability can be accounted for by common genetic risk variants identified to date. It is …

Common genetic variants explain less variation in complex phenotypes than inferred from
family-based studies, and there is a debate on the source of this 'missing heritability'. We …

Prioritizing genes for translation to therapeutics for common diseases has been challenging.
Here, we propose an approach to identify drug targets with high probability of success by …

Cranial growth and development is a complex process which affects the closely related traits
of head circumference (HC) and intracranial volume (ICV). The underlying genetic …

Increasing mapping precision of genome-wide association studies: to genotype and impute,
sequence, or both? | Genome Biology Skip to main content SpringerLink Account Menu Find a …

Novel insights on regulation of gene expression mechanisms highlight the pivotal role of
epitranscriptomic modifications on decision about transcript fate. These modifications …

Background Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially
fatal blood disorder, resulting from autoantibodies against ADAMTS13 (a disintegrin and …