John S. K. Kauwe

The paper shows that a synonymous variant in PILRA decreases mRNA and protein levels by disrupting a ramp sequence, providing a biological mechanism for its association with Alzheimer's disease.

This paper presents a high-quality genome assembly and associated data for the giant trevally, providing resources for ecological and comparative genomics studies.

The paper generates a high-quality genome assembly for the roundjaw bonefish and analyzes population genetic connectivity in the Western Indian Ocean.

The paper uses blood RNA levels and machine learning to predict Clinical Dementia Rating (CDR) groups, finding that combining nonsignificant probes improves classification accuracy.

The paper identifies rare genetic variants associated with exceptional longevity through pedigree analysis and genomic screening in Utah populations.

The paper fails to replicate previously reported epistatic interactions between TF and HFE variants and AD risk using a larger dataset, suggesting potential false positives or complex interactions.

The paper identifies dark and camouflaged gene regions in the human genome, shows how long-read sequencing reduces their prevalence, and applies an algorithm to uncover disease-relevant variants in Alzheimer's Disease Sequencing Project data.

The paper evaluates gene-gene interactions between CLU and MS4A4E variants in Alzheimer’s disease using a large dataset, finding a significant interaction and estimating its population attributable fraction.