Author

Sílvia Bonàs‐Guarch

Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas AsociadasORCID 0000-0002-2085-7488Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetics· 3 Genetic & Genomic Medicine· 2 Genomics· 2 Bioinformatics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 9 Approach:statistical model· 7 Research Focus:GWAS / association mapping· 4 Assay:bulk RNA-seq· 3 Assay:GWAS summary statistics· 3 Research Focus:eQTL / molecular QTL mapping· 2 Research Focus:fine-mapping· 2 Research Focus:gene regulatory network inference· 2

Frequent Co-Authors

Josep Maria MercaderiD· 7 shared Jorge P. FerreriD· 6 shared David TorrentsiD· 5 shared Goutham AtlaiD· 5 shared Irene Miguel-EscaladaiD· 5 shared José C. FloreziD· 5 shared Aaron LeongiD· 4 shared Ignasi MorániD· 4 shared

Activity by Year

2018-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

7 shared papersGenetics

Josep Maria MercaderORCID

Mutual co-authors in cluster

Author profile →

9 papers

Recent·Most cited

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes

Alicia Huerta‐Chagoya, Philip H. Schroeder, Ravi Mandla, Jiang Li, Lowri Morris, Maheak Vora, Ahmed N. Alkanaq, Dorka Nagy, Łukasz Szczerbiński, Jesper Grud Skat Madsen, Sílvia Bonàs‐Guarch, Fanny Mollandin, Joanne B. Cole, Bianca Porneala, Kenneth E. Westerman, , Josep Maria Mercader

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

Nature Genetics · Oct 8, 2024Peer-reviewedGenetic & Genomic Medicine

Genetic regulation of RNA splicing in human pancreatic islets

Goutham Atla, Sílvia Bonàs‐Guarch, Mirabai Cuenca-Ardura, Anthony Beucher, Daniel J. M. Crouch, Javier García-Hurtado, Ignasi Morán, Miriam Cnop, Lena Eliasson, Jonathan L.S. Esguerra, Decio Laks Eizirik, Leif Groop, Thomas Skøt Jensen, Torben F. Hansen, Piero Marchetti, , Jorge P. Ferrer

The paper identifies splicing QTLs in human pancreatic islets that contribute to type 2 diabetes susceptibility by affecting gene splicing and revealing novel molecular mechanisms.

Genome biology · Sep 15, 2022Peer-reviewedGenetics

Control of pancreatic islet function and glucose homeostasis by a novel microexon program misregulated in type 2 diabetes

Jonàs Juan‐Mateu, Simon Bajew, Marta Miret-Cuesta, L. Iñiguez, Amaya López-Pascual, Sophie Bonnal, Goutham Atla, Sílvia Bonàs‐Guarch, Jorge P. Ferrer, Juan Valcárcel, Manuel Irimia

The paper identifies a microexon program in pancreatic islets regulated by SRRM3, which affects insulin secretion and is linked to type 2 diabetes risk.

bioRxiv · Apr 2, 2022 · PreprintMolecular Biology

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

Lorena Alonso, Anthony Piron, Ignasi Morán, Marta Guindo-Martínez, Sílvia Bonàs‐Guarch, Goutham Atla, Irene Miguel-Escalada, Romina Royo, Montserrat Puiggròs, Xavier Garcia-Hurtado, Mara Suleiman, Lorella Marselli, Jonathan L.S. Esguerra, Jean‐Valéry Turatsinze, Jason Torres, , David Torrents

The paper creates TIGER, a resource integrating RNA-seq and genotyping data from human pancreatic islets to identify eQTLs and their associations with type 2 diabetes.

Cell Reports · Oct 1, 2021Peer-reviewedBioinformatics

The impact of non-additive genetic associations on age-related complex diseases.

Marta Guindo-Martínez, Ramon Amela, Sílvia Bonàs‐Guarch, Montserrat Puiggròs, Cecilia Salvoro, Irene Miguel-Escalada, Caitlin E. Carey, Joanne B. Cole, Sina Rüeger, Elizabeth G. Atkinson, Aaron Leong, Friman Sánchez, Cristian Ramon-Cortes, Jorge Ejarque, Duncan S. Palmer, , David Torrents

This study applies an improved GWAS strategy to age-related diseases, identifying new genetic loci by using multiple reference panels, analyzing the X chromosome, and testing non-additive models.

Nature Communications · Apr 23, 2021Peer-reviewedGenomics

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

Jennifer Wessel, Timothy D. Majarian, Heather M. Highland, Sridharan Raghavan, Mindy D Szeto, Natalie R. Hasbani, Paul S. de Vries, Jennifer A. Brody, Chloé Sarnowski, DANIEL A. DICORPO, Xianyong Yin, Bertha Hidalgo, Xiuqing Guo, James A. Perry, Jeffrey R. O’Connell, , José C. Florez

The paper identifies rare non-coding variants from whole genome sequencing in the TOPMed program, showing they contribute significantly to type 2 diabetes heritability.

medRxiv · Nov 13, 2020 · PreprintGenetic & Genomic Medicine

Human pancreatic islet 3D chromatin architecture provides insights into the genetics of type 2 diabetes

Irene Miguel-Escalada, Sílvia Bonàs‐Guarch, Inês Cebola, Joan Ponsa-Cobas, Julen Mendieta-Esteban, Goutham Atla, Biola M. Javierre, Delphine Rolando, Irene Farabella, Claire C. Morgan, Javier García-Hurtado, Anthony Beucher, Ignasi Morán, Lorenzo Pasquali, Mireia Ramos-Rodríguez, , Jorge P. Ferrer

The paper links diabetes-associated enhancers with their target genes using 3D chromatin architecture in human pancreatic islets, revealing genetic variants that impact insulin secretion heritability.

Nature Genetics · Jun 28, 2019Peer-reviewedGenomics

Clustering of Type 2 Diabetes Genetic Loci by Multi-Trait Associations Identifies Disease Mechanisms and Subtypes

Miriam S. Udler, Jaegil Kim, Marcin von Grotthuss, Sílvia Bonàs‐Guarch, Josep Maria Mercader, Joanne B. Cole, Joshua Chiou, Christopher D. Anderson, Michael Boehnke, Markku Laakso, Gil Atzmon, Benjamin Gläser, Kyle J. Gaulton, Jason A. Flannick, Gad A. Getz, José C. Florez

This paper clusters T2D genetic loci using multi-trait associations to identify disease mechanisms and subtypes, finding distinct clinical outcomes linked to each cluster.

bioRxiv · May 11, 2018 · PreprintGenetics

A Comprehensive Reanalysis Of Publicly Available GWAS Datasets Reveals An X Chromosome Rare Regulatory Variant Associated With High Risk For Type 2 Diabetes.

Sílvia Bonàs‐Guarch, Marta Guindo-Martínez, Irene Miguel-Escalada, Niels Grarup, David Sebastián, Elias Rodríguez-Fos, Friman Sánchez, Mercè Planas-Fèlix, Paula Cortés-Sánchez, Santiago González, Pascal N. Timshel, Tune H. Pers, Claire C. Morgan, Ignasi Morán, Goutham Atla, , David Torrents

The paper reanalyzes T2D GWAS data to identify a rare X chromosome variant associated with increased T2D risk in males.

Nature Communications · Jan 16, 2018Peer-reviewedGenetics