This review synthesizes current understanding of the genetic architecture of Alzheimer’s disease in the era of next-generation sequencing, with particular emphasis on variant classes beyond single nucleotide polymorphisms, and discusses somatic mosaicism that represents another layer of its complexity.
This review analyzes the use of WES as a strategic platform for personalized decision-making in contemporary practice given the multifactorial and heterogeneous complexity of AD, and proposes a hypothesis-generating theoretical framework whereby variants conventionally classified as benign or of uncertain significance...
Carlos Perezcano, M. Pérez-Coria, Ángel Ricardi-Mendoza· Life· 0 citations
A heteroscedastic personalized regression framework is introduced to move beyond cohort-averaged associations and construct individualized single-nucleotide polymorphism (SNP) profiles for each subject, showing that model-derived individualized SNP-score profiles can reveal latent structure associated with cognitive an...
Alzheimer’s disease (AD) and overlapping pathologies represent a growing worldwide health concern. With the first disease-modifying treatments on the rise, it becomes increasingly important to move research in this area forward. Genetic research is excellent at discovering novel contributors to disease mechanisms, whic...
Celeste Laureyssen, D. Thal, K. Sleegers· Acta Neuropathologica· 0 citations
Understanding of the genetic architecture of AD in the context of its main genetic driver is improved, and APOE-stratified insights may help understand and overcome side effects, inform clinical trial enrollment strategies, and create the scientific basis for targeted, mechanism-driven therapies in neurodegenerative di...
J. Thomassen, H. Leonard, Brittany Ulms et al.· Nature Genetics· 0 citations
The first pathway resolved South Asian genetic profile and a framework for comparative studies across populations are provided, with different contributions from P/LP-associated and VUS associated gene sets.
R. Menon, A. I. Khan, D. Elangovan et al.· medRxiv· 0 citations
Recent developments have expanded the understanding of the way the genetic basis of autism manifests phenotypically, and illustrate the therapeutic potential of gene-first approaches for selected monogenic neurodevelopmental disorders.
V. Eapen, A. Stylianakis, I. Voineagu· Current Opinion in Psychiatr...· 0 citations
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