日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

UPDhmm: detecting uniparental disomy from NGS trio data

更新:从NGS三重测序数据中检测单亲二体

Sevilla-Porras, Marta; Ruiz-Arenas, Carlos; Pérez-Jurado, Luis A

NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

NetActivity通过可解释的自编码器,将基因表达整合为稳健的基因集活性评分,从而增强转录信号。

Ruiz-Arenas, Carlos; Marín-Goñi, Irene; Wang, Liewei; Ochoa, Idoia; Pérez-Jurado, Luis A; Hernaez, Mikel

Knowledge sharing in manufacturing using LLM-powered tools: user study and model benchmarking

利用LLM驱动的工具进行制造业知识共享:用户研究和模型基准测试

Kernan Freire, Samuel; Wang, Chaofan; Foosherian, Mina; Wellsandt, Stefan; Ruiz-Arenas, Santiago; Niforatos, Evangelos

Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

临床背景下的表观突变检测:指南和来自新 Bioconductor 包的用例

Ruiz-Arenas, Carlos; Abarrategui, Leire; Hernandez-Ferrer, Carles; Escribà-Montagut, Xavier; Pelegrí-Sisó, Dolors; Ryser-Welch, Patricia; Vrijheid, Martine; Bustamante, Mariona; Grazuleviciene, Regina; Lepeule, Johanna; Mathai, Mathew; Vafeiadi, Marina; Beltran, Sergi; Pérez-Jurado, Luis A; González, Juan R

Multi-omics signatures of the human early life exposome

人类早期生活暴露组的多组学特征

Maitre, Léa; Bustamante, Mariona; Hernández-Ferrer, Carles; Thiel, Denise; Lau, Chung-Ho E; Siskos, Alexandros P; Vives-Usano, Marta; Ruiz-Arenas, Carlos; Pelegrí-Sisó, Dolors; Robinson, Oliver; Mason, Dan; Wright, John; Cadiou, Solène; Slama, Rémy; Heude, Barbara; Casas, Maribel; Sunyer, Jordi; Papadopoulou, Eleni Z; Gutzkow, Kristine B; Andrusaityte, Sandra; Grazuleviciene, Regina; Vafeiadi, Marina; Chatzi, Leda; Sakhi, Amrit K; Thomsen, Cathrine; Tamayo, Ibon; Nieuwenhuijsen, Mark; Urquiza, Jose; Borràs, Eva; Sabidó, Eduard; Quintela, Inés; Carracedo, Ángel; Estivill, Xavier; Coen, Muireann; González, Juan R; Keun, Hector C; Vrijheid, Martine

Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood

儿童血液中常染色体顺式表达数量性状甲基化 (cis eQTMs) 的鉴定

Carlos Ruiz-Arenas, Carles Hernandez-Ferrer, Marta Vives-Usano, Sergi Marí, Ines Quintela, Dan Mason, Solène Cadiou, Maribel Casas, Sandra Andrusaityte, Kristine Bjerve Gutzkow, Marina Vafeiadi, John Wright, Johanna Lepeule, Regina Grazuleviciene, Leda Chatzi, Ángel Carracedo, Xavier Estivill, Eulàl

The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

早期生活暴露组调节多态性倒位对DNA甲基化的影响

Carreras-Gallo, Natàlia; Cáceres, Alejandro; Balagué-Dobón, Laura; Ruiz-Arenas, Carlos; Andrusaityte, Sandra; Carracedo, Ángel; Casas, Maribel; Chatzi, Leda; Grazuleviciene, Regina; Gutzkow, Kristine Bjerve; Lepeule, Johanna; Maitre, Léa; Nieuwenhuijsen, Mark; Slama, Remy; Stratakis, Nikos; Thomsen, Cathrine; Urquiza, Jose; Wright, John; Yang, Tiffany; Escaramís, Geòrgia; Bustamante, Mariona; Vrijheid, Martine; Pérez-Jurado, Luis A; González, Juan R

Study of the Combined Effect of Maternal Tobacco Smoking and Polygenic Risk Scores on Birth Weight and Body Mass Index in Childhood

母亲吸烟和多基因风险评分对儿童出生体重和体重指数的综合影响研究

Fuentes-Paez, Georgina; Escaramís, Geòrgia; Aguilar-Lacasaña, Sofía; Andrusaityte, Sandra; Brantsæter, Anne Lise; Casas, Maribel; Charles, Marie-Aline; Chatzi, Leda; Lepeule, Johanna; Grazuleviciene, Regina; Gützkow, Kristine B; Heude, Barbara; Maitre, Léa; Ruiz-Arenas, Carlos; Sunyer, Jordi; Urquiza, Jose; Yang, Tiffany C; Wright, John; Vrijheid, Martine; Vilor-Tejedor, Natàlia; Bustamante, Mariona

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

从DNA甲基化遗传效应图谱中获得的基因组和表型见解

Min, Josine L; Hemani, Gibran; Hannon, Eilis; Dekkers, Koen F; Castillo-Fernandez, Juan; Luijk, René; Carnero-Montoro, Elena; Lawson, Daniel J; Burrows, Kimberley; Suderman, Matthew; Bretherick, Andrew D; Richardson, Tom G; Klughammer, Johanna; Iotchkova, Valentina; Sharp, Gemma; Al Khleifat, Ahmad; Shatunov, Aleksey; Iacoangeli, Alfredo; McArdle, Wendy L; Ho, Karen M; Kumar, Ashish; Söderhäll, Cilla; Soriano-Tárraga, Carolina; Giralt-Steinhauer, Eva; Kazmi, Nabila; Mason, Dan; McRae, Allan F; Corcoran, David L; Sugden, Karen; Kasela, Silva; Cardona, Alexia; Day, Felix R; Cugliari, Giovanni; Viberti, Clara; Guarrera, Simonetta; Lerro, Michael; Gupta, Richa; Bollepalli, Sailalitha; Mandaviya, Pooja; Zeng, Yanni; Clarke, Toni-Kim; Walker, Rosie M; Schmoll, Vanessa; Czamara, Darina; Ruiz-Arenas, Carlos; Rezwan, Faisal I; Marioni, Riccardo E; Lin, Tian; Awaloff, Yvonne; Germain, Marine; Aïssi, Dylan; Zwamborn, Ramona; van Eijk, Kristel; Dekker, Annelot; van Dongen, Jenny; Hottenga, Jouke-Jan; Willemsen, Gonneke; Xu, Cheng-Jian; Barturen, Guillermo; Català-Moll, Francesc; Kerick, Martin; Wang, Carol; Melton, Phillip; Elliott, Hannah R; Shin, Jean; Bernard, Manon; Yet, Idil; Smart, Melissa; Gorrie-Stone, Tyler; Shaw, Chris; Al Chalabi, Ammar; Ring, Susan M; Pershagen, Göran; Melén, Erik; Jiménez-Conde, Jordi; Roquer, Jaume; Lawlor, Deborah A; Wright, John; Martin, Nicholas G; Montgomery, Grant W; Moffitt, Terrie E; Poulton, Richie; Esko, Tõnu; Milani, Lili; Metspalu, Andres; Perry, John R B; Ong, Ken K; Wareham, Nicholas J; Matullo, Giuseppe; Sacerdote, Carlotta; Panico, Salvatore; Caspi, Avshalom; Arseneault, Louise; Gagnon, France; Ollikainen, Miina; Kaprio, Jaakko; Felix, Janine F; Rivadeneira, Fernando; Tiemeier, Henning; van IJzendoorn, Marinus H; Uitterlinden, André G; Jaddoe, Vincent W V; Haley, Chris; McIntosh, Andrew M; Evans, Kathryn L; Murray, Alison; Räikkönen, Katri; Lahti, Jari; Nohr, Ellen A; Sørensen, Thorkild I A; Hansen, Torben; Morgen, Camilla S; Binder, Elisabeth B; Lucae, Susanne; Gonzalez, Juan Ramon; Bustamante, Mariona; Sunyer, Jordi; Holloway, John W; Karmaus, Wilfried; Zhang, Hongmei; Deary, Ian J; Wray, Naomi R; Starr, John M; Beekman, Marian; van Heemst, Diana; Slagboom, P Eline; Morange, Pierre-Emmanuel; Trégouët, David-Alexandre; Veldink, Jan H; Davies, Gareth E; de Geus, Eco J C; Boomsma, Dorret I; Vonk, Judith M; Brunekreef, Bert; Koppelman, Gerard H; Alarcón-Riquelme, Marta E; Huang, Rae-Chi; Pennell, Craig E; van Meurs, Joyce; Ikram, M Arfan; Hughes, Alun D; Tillin, Therese; Chaturvedi, Nish; Pausova, Zdenka; Paus, Tomas; Spector, Timothy D; Kumari, Meena; Schalkwyk, Leonard C; Visscher, Peter M; Davey Smith, George; Bock, Christoph; Gaunt, Tom R; Bell, Jordana T; Heijmans, Bastiaan T; Mill, Jonathan; Relton, Caroline L

Variability of multi-omics profiles in a population-based child cohort

基于人群的儿童队列中多组学特征的变异性

Gallego-Paüls, Marta; Hernández-Ferrer, Carles; Bustamante, Mariona; Basagaña, Xavier; Barrera-Gómez, Jose; Lau, Chung-Ho E; Siskos, Alexandros P; Vives-Usano, Marta; Ruiz-Arenas, Carlos; Wright, John; Slama, Remy; Heude, Barbara; Casas, Maribel; Grazuleviciene, Regina; Chatzi, Leda; Borràs, Eva; Sabidó, Eduard; Carracedo, Ángel; Estivill, Xavier; Urquiza, Jose; Coen, Muireann; Keun, Hector C; González, Juan R; Vrijheid, Martine; Maitre, Léa