Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …

One goal of genomic medicine is to uncover an individual's genetic risk for disease, which
generally requires data connecting genotype to phenotype, as done in genome-wide …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-
ancestry genetic research of RA promises to improve power to detect genetic signals, fine …

Linkage disequilibrium (LD) is the correlation among nearby genetic variants. In genetic
association studies, LD is often modeled using large correlation matrices, but this approach …

The genetic effect-size distribution of a disease describes the number of risk variants, the
range of their effect sizes and sample sizes that will be required to discover them. Accurate …

Background Leeches have been used in traditional Chinese medicine since prehistoric
times to treat a spectrum of ailments, but very little is known about their physiological …

Motivation Measuring genetic diversity is an important problem because increasing genetic
diversity is a key to making new genetic discoveries, while also being a major source of …

Single nucleotide polymorphisms (SNPs) are the most abundant type of genomic variation
and the most accessible to genotype in large cohorts. However, they individually explain a …

Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present
with short stature, pseudomuscular build, stiff joints, and tight skin. Acromelic dysplasias are …