% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{BracherSmith:280043,
author = {Bracher-Smith, Matthew and Melograna, Federico and Ulm,
Brittany and Bellenguez, Céline and Grenier-Boley, Benjamin
and Duroux, Diane and Nevado, Alejo J and Holmans, Peter and
Tijms, Betty M and Hulsman, Marc and de Rojas, Itziar and
Campos-Martin, Rafael and der Lee, Sven van and Castillo,
Atahualpa and Küçükali, Fahri and Peters, Oliver and
Schneider, Anja and Dichgans, Martin and Rujescu, Dan and
Scherbaum, Norbert and Deckert, Jürgen and Riedel-Heller,
Steffi and Hausner, Lucrezia and Molina-Porcel, Laura and
Düzel, Emrah and Grimmer, Timo and Wiltfang, Jens and
Heilmann-Heimbach, Stefanie and Moebus, Susanne and Tegos,
Thomas and Scarmeas, Nikolaos and Dols-Icardo, Oriol and
Moreno, Fermin and Pérez-Tur, Jordi and Bullido, María J
and Pastor, Pau and Sánchez-Valle, Raquel and Álvarez,
Victoria and Boada, Mercè and García-González, Pablo and
Puerta, Raquel and Mir, Pablo and Real, Luis M and
Piñol-Ripoll, Gerard and García-Alberca, Jose María and
Rodriguez-Rodriguez, Eloy and Soininen, Hilkka and
Heikkinen, Sami and de Mendonça, Alexandre and Mehrabian,
Shima and Traykov, Latchezar and Hort, Jakub and Vyhnalek,
Martin and Sandau, Nicolai and Thomassen, Jesper Qvist and
Pijnenburg, Yolande A L and Holstege, Henne and van Swieten,
John and Ramakers, Inez and Verhey, Frans and Scheltens,
Philip and Graff, Caroline and Papenberg, Goran and
Giedraitis, Vilmantas and Williams, Julie and Amouyel,
Philippe and Boland, Anne and Deleuze, Jean-François and
Nicolas, Gael and Dufouil, Carole and Pasquier, Florence and
Hanon, Olivier and Debette, Stéphanie and Grünblatt, Edna
and Popp, Julius and Ghidoni, Roberta and Galimberti,
Daniela and Arosio, Beatrice and Mecocci, Patrizia and
Solfrizzi, Vincenzo and Parnetti, Lucilla and Squassina,
Alessio and Tremolizzo, Lucio and Borroni, Barbara and
Wagner, Michael and Nacmias, Benedetta and Spallazzi, Marco
and Seripa, Davide and Rainero, Innocenzo and Daniele,
Antonio and Piras, Fabrizio and Masullo, Carlo and Rossi,
Giacomina and Jessen, Frank and Kehoe, Patrick and Magda,
Tsolaki and Sánchez-Juan, Pascual and Sleegers, Kristel and
Ingelsson, Martin and Hiltunen, Mikko and Sims, Rebecca and
van der Flier, Wiesje and Andreassen, Ole A and Ruiz,
Agustín and Ramirez, Alfredo and Frikke-Schmidt, Ruth and
Amin, Najaf and Roshchupkin, Gennady and Lambert,
Jean-Charles and Van Steen, Kristel and van Duijn, Cornelia
and Escott-Price, Valentina},
collaboration = {EADB},
othercontributors = {Jansen, Iris and van der Lee, Sven and Andrade, Victor and
Fernández, Victoria and Dalmasso, Maria-Carolina and
Kleineidam, Luca and Ahmad, Shahzad and Aarsland, Dag and
Cano, Amanda and Abdelnour, Carla and Alarcón-Martín,
Emilio and Alcolea, Daniel and Alegret, Montserrat and
Alvarez, Ignacio and Armstrong, Nicola J and Anthoula,
Tsolaki and Appollonio, Ildebrando and Arcaro, Marina and
Archetti, Silvana and Pastor, Alfonso Arias and Athanasiu,
Lavinia and Bailly, Henri and Banaj, Nerisa and Baquero,
Miquel and Pastor, Ana Belén and Berr, Claudine and Besse,
Céline and Bessi, Valentina and Binetti, Giuliano and
Fostinelli, Silvia and Bellini, Sonia and Bizarro,
Alessandra and Blesa, Rafael and Boada, Mercè and Boschi,
Silvia and Bossù, Paola and Bråthen, Geir and Bresner,
Catherine and Brodaty, Henry and Brookes, Keeley J and
Buiza-Rueda, Dolores and Bürger, Katharina and Burholt,
Vanessa and Calero, Miguel and Chene, Geneviève and
Carracedo, Ángel and Cecchetti, Roberta and Cervera-Carles,
Laura and Charbonnier, Camille and Chillotti, Caterina and
Ciccone, Simona and Claassen, Jurgen A H R and Clarimon,
Jordi and Clark, Christopher and Conti, Elisa and
Corma-Gómez, Anaïs and Giuffrè, Guido Maria and
Custodero, Carlo and Daian, Delphine and Dardiotis,
Efthimios and Dartigues, Jean-François and de Deyn, Peter
Paul and Del Ser, Teodoro and Denning, Nicola and
Diehl-Schmid, Janine and Diez-Fairen, Mónica and Rossi,
Paolo Dionigi and Djurovic, Srdjan and Duron, Emmanuelle and
Engelborghs, Sebastiaan and Blázquez, Josep and Ewers,
Michael and Fabrizio, Tagliavini and Nielsen, Sune Fallgaard
and Farotti, Lucia and Fenoglio, Chiara and
Fernández-Fuertes, Marta and Ferreira, Catarina B and
Ferri, Evelyn and Fin, Bertrand and Fischer, Peter and
Fladby, Tormod and Fließbach, Klaus and Fortea, Juan and
Foroud, Tatiana M and Fostinelli, Silvia and Fox, Nick C and
Franco-Macías, Emlio and Frank-García, Ana and Froelich,
Lutz and García-Alberca, Jose Maria and García-González,
Pablo and Garcia-Madrona, Sebastian and Garcia-Ribas,
Guillermo and Giegling, Ina and Giorgio, Giaccone and
Goldhardt, Oliver and González-Pérez, Antonio and Grande,
Giulia and Green, Emma and Guetta-Baranes, Tamar and
Haapasalo, Annakaisa and Hadjigeorgiou, Georgios and Hampel,
Harald and Hardy, John and Hartmann, Annette M and Leonenko,
Ganna and Harwood, Janet and Helisalmi, Seppo and Heneka,
Michael T and Hernández, Isabel and Herrmann, Martin J and
Hoffmann, Per and Holmes, Clive and Vilas, Raquel Huerto and
Hulsman, Marc and Jan Biessels, Geert and Johansson,
Charlotte and Kilander, Lena and Ståhlbom, Anne Kinhult and
Kivipelto, Miia and Koivisto, Anne and Kornhuber, Johannes
and Kosmidis, Mary H and Lage, Carmen and Laukka, Erika J
and Lauria, Alessandra and Lehtisalo, Jenni and Lerch,
Ondrej and Lleó, Alberto and de Munain, Adolfo Lopez and
Love, Seth and Löwemark, Malin and Luckcuck, Lauren and
Macías, Juan and MacLeod, Catherine A and Maier, Wolfgang
and Mangialasche, Francesca and Marco, Spallazzi and
Marquié, Marta and Marshall, Rachel and Montes, Angel
Martín and Rodríguez, Carmen Martínez and Mead, Simon and
Medina, Miguel and Meggy, Alun and Mendoza, Silvia and
Menéndez-González, Manuel and Mol, Merel and Montrreal,
Laura and Morgan, Kevin and Nöthen, Markus M and Ngandu,
Tiia and Nordestgaard, Børge G and Olaso, Robert and
Orellana, Adelina and Orsini, Michela and Capdevila, Maria
and Padovani, Alessandro and Paolo, Caffarra and
Martinez-Lucas, Marta and Pericard, Pierre and Pineda, Juan
A and Pisanu, Claudia and Polak, Thomas and Posthuma,
Danielle and Priller, Josef and Puerta, Raquel and Quenez,
Olivier and Quintela, Inés and Rábano, Alberto and
Reinders, Marcel J T and Riederer, Peter and Olivé, Claudia
and Rongve, Arvid and Allende, Irene Rosas and Rosende-Roca,
Maitée and Royo, Jose Luis and Rubino, Elisa and Sáez,
María Eugenia and Sakka, Paraskevi and Saltvedt, Ingvild
and García-Gutierrez, Fernando and Sánchez-Arjona, María
Bernal and Sanchez-Garcia, Florentino and Sánchez-Juan,
Pascual and Sánchez-Valle, Raquel and Sando, Sigrid B and
Scamosci, Michela and Scarpini, Elio and Scherer, Martin and
Schmid, Matthias and Schott, Jonathan M and Selbæk, Geir
and Shadrin, Alexey A and Skrobot, Olivia and Solomon, Alina
and Sorbi, Sandro and Sotolongo-Grau, Oscar and Spottke,
Annika and Stordal, Eystein and Miguel, Andrea and Tárraga,
Lluís and Tesí, Niccolo and Thalamuthu, Anbupalam and
Thomas, Tegos and Traykov, Latchezar and Tybjærg-Hansen,
Anne and Uitterlinden, Andre and Ullgren, Abbe and Ulstein,
Ingun and Valero, Sergi and Van Broeckhoven, Christine and
Van Dongen, Jasper and van Rooij, Jeroen and Vandenberghe,
Rik and Vidal, Jean-Sebastian and Vita, Maria Gabriella and
Vogelgsang, Jonathan and Wagner, Michael and Wallon, David
and Weinhold, Leonie and Windle, Gill and Woods, Bob and
Yannakoulia, Mary and Zulaica, Miren and Ghanbari, Mohsen
and Sachdev, Perminder and Mather, Karen and Ikram, Mohammad
Arfan},
title = {{M}achine learning in {A}lzheimer's disease genetics.},
journal = {Nature Communications},
volume = {16},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Springer Nature},
reportid = {DZNE-2025-00882},
pages = {6726},
year = {2025},
abstract = {Traditional statistical approaches have advanced our
understanding of the genetics of complex diseases, yet are
limited to linear additive models. Here we applied machine
learning (ML) to genome-wide data from 41,686 individuals in
the largest European consortium on Alzheimer's disease (AD)
to investigate the effectiveness of various ML algorithms in
replicating known findings, discovering novel loci, and
predicting individuals at risk. We utilised Gradient
Boosting Machines (GBMs), biological pathway-informed Neural
Networks (NNs), and Model-based Multifactor Dimensionality
Reduction (MB-MDR) models. ML approaches successfully
captured all genome-wide significant genetic variants
identified in the training set and $22\%$ of associations
from larger meta-analyses. They highlight 6 novel loci which
replicate in an external dataset, including variants which
map to ARHGAP25, LY6H, COG7, SOD1 and ZNF597. They further
identify novel association in AP4E1, refining the genetic
landscape of the known SPPL2A locus. Our results demonstrate
that machine learning methods can achieve predictive
performance comparable to classical approaches in genetic
epidemiology and have the potential to uncover novel loci
that remain undetected by traditional GWAS. These insights
provide a complementary avenue for advancing the
understanding of AD genetics.},
keywords = {Alzheimer Disease: genetics / Humans / Machine Learning /
Genome-Wide Association Study / Genetic Predisposition to
Disease / Polymorphism, Single Nucleotide / Algorithms /
GTPase-Activating Proteins: genetics / Neural Networks,
Computer / GTPase-Activating Proteins (NLM Chemicals)},
cin = {AG Peters / AG Schneider / AG Dichgans / AG Düzel / AG
Wiltfang / AG Wagner / AG Jessen / Patient Studies (Bonn)},
ddc = {500},
cid = {I:(DE-2719)5000000 / I:(DE-2719)1011305 /
I:(DE-2719)5000022 / I:(DE-2719)5000006 / I:(DE-2719)1410006
/ I:(DE-2719)1011201 / I:(DE-2719)1011102 /
I:(DE-2719)1011101},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40691194},
doi = {10.1038/s41467-025-61650-z},
url = {https://pub.dzne.de/record/280043},
}
guest ::