Auwerx C

BackgroundTelomeres form repeated DNA sequences at the ends of chromosomes, which shorten with each cell division. Yet, factors modulating telomere attrition and the health consequences thereof are not fully understood. To address this, we …

BackgroundCopy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described.MethodsAssessing four modes of CNV a…

ABSTRACT Background Copy-number variations (CNVs) have been associated with rare and debilitating genomic syndromes but their impact on health later in life in the general population remains poorly described. Methods Assessing four modes of…

Drugs targeting genes that harbor natural variations associated with the disease the drug is in-dicated for have increased odds to be approved. Various approaches have been proposed to iden-tify likely causal genes for complex diseases, inc…

Drugs targeting genes linked to disease via evidence from human genetics have increased odds of approval. Approaches to prioritize such genes include genome-wide association studies (GWASs), rare variant burden tests in exome sequencing stu…