We recently reported evidence of Alzheimer's disease (AD)-linked genetic variation within
the mucin 6 (MUC6) gene on chromosome 11p, nearby the adaptor-related protein complex …

Objective Gout is characterised by severe interleukin (IL)-1-mediated joint inflammation
induced by monosodium urate crystals. Since IL-37 is a pivotal anti-inflammatory cytokine …

As ever-larger cohorts of human genomes are collected in pursuit of genotype/phenotype
associations, sequencing informatics must scale up to yield complete and accurate …

Rare variants are collectively numerous and may underlie a considerable proportion of
complex disease risk. However, identifying genuine rare variant associations is challenging …

Pathogen genomic data are increasingly used to characterize global and local transmission
patterns of important human pathogens and to inform public health interventions. Yet, there …

We found evidence of late-onset Alzheimer disease (LOAD)-associated genetic
polymorphism within an exon of Mucin 6 (MUC6) and immediately downstream from another …

Genetic studies have shifted to sequencing-based rare variants discovery after decades of
success in identifying common disease variants by Genome-Wide Association Studies using …

Pathogen genomic data are increasingly used to characterize global and local transmission
patterns of important human pathogens and to inform public health interventions. Yet there is …

Primary progressive aphasia (PPA) is mainly considered a sporadic disease and few studies
have systematically analyzed its genetic basis. We here report the analyses of C9orf72 …

In clinical genomics, variant calling from short-read sequencing data typically relies on a pan-
genomic, universal human reference sequence. A major limitation of this approach is that …