Author

José Garcia‐Pelaez

Universidade do PortoORCID 0000-0003-0677-8908Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:ATAC-seq· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

A. Pedro· 1 shared Adam JacksoniD· 1 shared Alberto Corvo· 1 shared Alexander HoischeniD· 1 shared Ana AndréiD· 1 shared Ana TöpfiD· 1 shared Anastasios PapakonstantinouiD· 1 shared Andreas Traschütz· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. Pedro

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2 papers

Recent·Most cited

Combined analysis of chromatin accessibility, promoter interactions and whole genome sequencing solved the missing heritability in gastric cancer

Celina São José, Marta Ferreira, L. Cordova, A. Pedro, Janine Senz, José Garcia‐Pelaez, Silvana Lobo, Irene Gullo, Ana André, Pardeep Kaurah, Fiona Puntieri, Juliane Glaser, David D. Huntsman, Stefan Mundlos, Kasmintan A. Schrader, Carla Roma Oliveira

The paper identifies novel genetic mechanisms underlying missing heritability in HDGC-like families by integrating chromatin accessibility, promoter interactions, and whole-genome sequencing data.

medRxiv · Nov 27, 2024 · PreprintGenetic & Genomic Medicine

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltrán, Christian Gilissen, Alexander Hoischen, , Emanuele Raineri

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

npj Genomic Medicine · Oct 26, 2024Peer-reviewedGenetic & Genomic Medicine