INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome
sequencing (WGS) data consented for public distribution without access or use restrictions. The …

Interventional pharmacology is one of medicine's most potent weapons against disease.
These drugs, however, can result in damaging side effects and must be closely monitored. …

Context As many as 75% of patients with polycystic ovary syndrome (PCOS) are estimated
to be unidentified in clinical practice. Objective Utilizing polygenic risk prediction, we aim to …

Retromer is a heteropentameric complex that plays a specialized role in endosomal protein
sorting and trafficking. Here, we report a reduction in the retromer proteins—vacuolar protein …

Less than half of individuals with a suspected Mendelian condition receive a precise molecular
diagnosis after comprehensive clinical genetic testing. Improvements in data quality and …

Genome-wide, imputed, sequence, and structural data are now available for exceedingly
large sample sizes. The needs for data management, handling population structure and …

Background The development of sequencing techniques and statistical methods provides
great opportunities for identifying the impact of rare genetic variation on complex traits. …

We performed a Phenome-Wide Association Study (PheWAS) to identify interrelationships
between the immune system genetic architecture and a wide array of phenotypes from two de-…

Background Rapid advancement of next generation sequencing technologies such as
whole genome sequencing (WGS) has facilitated the search for genetic factors that influence …