Associations can be mapped using k-mer frequencies in sequencing reads without prior sequencing of a reference genome enabling detection of associations to variants of multiple types and outside of the reference.

Genomic polymorphism across centromeric regions of humans is organized into large-scale haplotypes with great diversity, including entire Neanderthal centromeres.

Harmful genetic variants at mendelian disease genes slow down adaptation, by interfering with the spread of adaptive variants in a population.

A map of the genetic variants affecting chromatin accessibility in 1000 individuals from 10 diverse populations reveals how cis-regulatory variants impact transcription and disease.

A new framework for mutation spectrum analysis reveals multiple independent changes in the germline mutation patterns of human populations, which cannot be explained by shifts in average ages at reproduction.

Some deleterious mutations co-occurring within a genome can compensate each other, and this affects patterns of polymorphism, particularly in highly polymorphic species.

It is always better to use mixed effects models over principal components association regression for genetic association studies of continuous traits, since the former models family structure and close relatives are always found in real human studies.

Leveraging the X-LD method for estimating inter-chromosomal linkage disequilibrium in the human genome uncovers a universal extended LD pattern, consistent with observations in 1KG cohorts.

The complex histories of social relationships between enslaved and non-enslaved communities and their descendants during and after the Trans-Atlantic Slave-Trade shaped the detailed genetic and linguistic histories of admixture of the islands of Cabo Verde.

Graph genotyping of structural variation in diverse human populations reveals functional associations and signatures of local adaptation within poorly resolved regions of the genome.