Author

Marcos Fernandez-Callejo

Centro Nacional de Análisis Genómico

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Evolutionary Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:chromatin & epigenetic regulation· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam JacksoniD· 1 shared Alberto Corvo· 1 shared Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Anastasios PapakonstantinouiD· 1 shared Andreas Traschütz· 1 shared Andrew J Sharp· 1 shared Ange‐Line BrueliD· 1 shared

Activity by Year

2015-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam JacksonORCID

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2 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedOct 26, 2024

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…·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.

9 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Evolutionary BiologybioRxivMar 3, 2015

The interplay between DNA methylation and sequence divergence in recent human evolution

Irene Hernando-Herraez, Holger Heyn, Marcos Fernandez-Callejo…·Tomas Marques-Bonet

This study identifies human-specific DNA methylation patterns and their relationship with genetic variation in humans and great apes.

DOI 10.1093/nar/gkv693

humanDNA methylation

𝕏 PostBluesky