This study identifies genetic variants associated with longevity in a Calabrian cohort, finding one genome-wide significant variant and highlighting pathways related to aging.

bioRxiv · Dec 19, 2025 · PreprintGenomics

PRS-GRID: A Cross and Within Ancestry Polygenic Risk Prediction Method Based on Individual Genetic Distance

Liwei Tang, Cong You, Xuejun Kong, Valerio Napolioni, Jie Huang

PRS-GRID improves polygenic risk prediction by incorporating individual genetic distance to enhance accuracy for non-European populations.

medRxiv · May 16, 2024 · PreprintGenetic & Genomic Medicine

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

Henne H. Holstege, Matthijs W. J. de Waal, Niccoló Tesi, Sven J. van der Lee, Christa M. de Geus, Rosalina M.L. van Spaendonk, Maartje J. Vogel, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W. Beecham, Céline Bellenguez, Claudine Berr, Joshua C. Bis, Anne Boland, , Jennifer S. Yokoyama

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

medRxiv · Jul 13, 2023 · PreprintGenetic & Genomic Medicine

De-novo genome assembly of the invasive mosquito species Aedes japonicus and Aedes koreicus

Paolo Luigi Catapano, Monica Falcinelli, Claudia Damiani, Alessia Cappelli, Despoina Koukouli, Paolo Rossi, Irene Ricci, Valerio Napolioni, Guido Favia

The paper presents de novo genome assemblies for two invasive mosquito species, Ae. japonicus and Ae. koreicus, using a hybrid sequencing approach and identifies genes related to thermal adaptation and insecticide resistance.

bioRxiv · Apr 12, 2023 · PreprintGenomics

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

Henne H. Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Detelina Grozeva, Jeroen van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols‐Icardo, Holger Hummerich, Amit Kawalia, Alzheimer's Disease Neuroimaging Initiative Database, , John Hardy

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Nature Genetics · Nov 21, 2022Peer-reviewedGenetic & Genomic Medicine

PAGEANT: Personal Access to Genome and Analysis of Natural Traits

Jie Huang, Zhisheng Liang, Stefano Pallotti, Janice M. Ranson, David J. Llewellyn, Zhi‐Jie Zheng, Daniel A. King, Qiang Zhou, Hou‐Feng Zheng, Valerio Napolioni

PAGEANT provides a framework for genetic reporting tools by analyzing genomic data to assess health risks and genetic traits, using publicly available genome datasets.

Nucleic Acids Research · Dec 3, 2021Peer-reviewedGenetic & Genomic Medicine

APOE missense variant R145C is associated with increased Alzheimer's disease risk in African ancestry individuals with the APOE ϵ3/ϵ4 genotype

Yann Le Guen, Michaël E. Belloy, Sarah J. Eger, Annabel W. Chen, Gabriel Kennedy, Timothy A. Thornton, Lindsay A. Farrer, Valerio Napolioni, Zihuai He, Michael D. Greicius

medRxiv · Oct 20, 2021 · PreprintGenetic & Genomic Medicine

Network propagation of rare mutations in Alzheimer’s disease reveals tissue-specific hub genes and communities

Marzia A. Scelsi, Valerio Napolioni, Michael D. Greicius, André Altmann, Alzheimer’s Disease Neuroimaging Initiative, the Alzheimer’s Disease Sequencing Project (ADSP)

The paper introduces NETPAGE, a network propagation method to analyze rare mutations in Alzheimer's disease, identifying tissue-specific hub genes and predicting disease status.

PLoS Computational Biology · Jan 7, 2021Peer-reviewedGenomics

Genetic variation in CSMD1 affects amygdala connectivity and prosocial behavior

Kevin C. Bickart, Valerio Napolioni, Raiyan Rashid Khan, Yongha Kim, André Altmann, Jonas Richiardi, Megan R. Newsom, Sepideh Sadaghiani, Tobias Banaschewski, Arun L.W. Bokde, EB Quinlan, Sylvane Desrivières, Herta Flor, Hugh Garavan, Penny Anne Gowland, , Michael D. Greicius

This study identifies a genetic variant in CSMD1 associated with amygdala connectivity and prosocial behavior through a GWAS of brain networks in adolescents.

bioRxiv · Sep 27, 2020 · PreprintNeuroscience