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 …

Comprehensive disease gene discovery in both common and rare diseases will require the
efficient and accurate detection of all classes of genetic variation across tens to hundreds of …

Structural variants (SVs) rearrange large segments of DNA 1 and can have profound
consequences in evolution and human disease 2 , 3 . As national biobanks, disease-association …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism’s …

We describe an analysis of genome variation in 825 P. falciparum samples from Asia and
Africa that identifies an unusual pattern of parasite population structure at the epicenter of …

Malaria elimination strategies require surveillance of the parasite population for genetic
changes that demand a public health response, such as new forms of drug resistance 1 , 2 . …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders 1 , 2 , 3 – 4 …

The malaria parasite Plasmodium falciparum has a great capacity for evolutionary adaptation
to evade host immunity and develop drug resistance. Current understanding of parasite …