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.
Maria Gutierrez-Arcelus, Tuuli Lappalainen ... Emmanouil T Dermitzakis
Detailed analysis of umbilical cord cells shows that the associations between DNA methylation, gene expression and genetic variation are complex and context-dependent.
John A Lees, Nicholas J Croucher ... Stephen D Bentley
Sequence changes in the pneumococcal genome explain most of the variability in duration of asymptomatic carriage with serotype, antibiotic resistance and prophage accounting for the largest effects.
MalariaGEN Plasmodium falciparum Community Project
Plasmodium falciparum kelch13 mutations that cause artemisinin resistant malaria in Southeast Asia show markedly different patterns of evolutionary selection in Africa.