Balancing selection maintains advantageous diversity in populations through various
mechanisms. Although extensively explored from a theoretical perspective, an empirical …

Background Genetic diversity is known to confer survival advantage in many species across
the tree of life. Here, we hypothesize that such pattern applies to humans as well and could …

There is a need to accurately call human leukocyte antigen (HLA) genes from existing short-
read sequencing data, however there is no single solution that matches the gold standard of …

Major progress in disease genetics has been made through genome-wide association
studies (GWASs). One of the key tasks for post-GWAS analyses is to identify causal …

Zygosity of diploid genome (ie, degree to which two parental alleles of a gene have varied
genetic sequences) adds another dimension to stochastic gene expression. The allelic …

Motivation Whole-genome DNA sequencing (WGS) enables the discovery of non-coding
variants, but tools are lacking to prioritize the subset that functionally impacts human …

La santé cardiovasculaire, la fonction immunitaire, l'hémostase et la réponse à d'autres
maladies dépendent de l'abondance et des caractéristiques spécifiques des cellules …