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.

Studying the impact of natural variation on a key immune gene highlights how focusing on a single wild-type sequence overlooks that rare variants cause the most disease.

Direct-to-consumer genetic genealogy services that allow users to upload their own datasets are vulnerable to attacks on genetic privacy that exploit the structure of genetic variation.

Heritable mutations tend to occur within different DNA sequence contexts in different human populations, suggesting that DNA replication and repair often change in efficacy over only a few hundred generations of evolution.

The MADA motif is functionally conserved across NLRs from distantly related plants and has degenerated in sensor NLRs over evolutionary time.

Neural networks allow fast and accurate prediction of individual spatial locations from genotypes or sequencing data.

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

A gene-centric functional screen uncovers biological mechanisms underlying genome-wide association study signals for human red blood cell traits.

Background selection and GC-biased gene conversion impact the human genome to a much larger extent than previously recognized in low and high recombination rate regions, respectively.

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.