Marcos Fernández-Callejo

Centro Nacional de Análisis Genómico — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

15h-index2.6kcitations32works8.02yr avg
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Research Topics

Genomics and Rare Diseases(10), Genomics and Phylogenetic Studies(7), Epigenetics and DNA Methylation(5), Chromosomal and Genetic Variations(5), Genomic variations and chromosomal abnormalities(5)

Publications26 total

An interconnected data infrastructure to support large-scale rare disease research
GigaScience·2024· 8 citedOpen Access
A unified data infrastructure to support large-scale rare disease research
2023Open Access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Human Genomics·2023· 27 citedOpen Access
A structural equation modelling approach to understanding the determinants of childhood vaccination in Nigeria, Uganda and Guinea
PLOS Global Public Health·2023· 3 citedOpen Access
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases
Cell Genomics·2023· 4 citedOpen Access
A structural equation modelling approach to understanding the determinants of childhood vaccination in Nigeria, Uganda and Guinea
2022Open Access
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Journal of Molecular Diagnostics·2022· 27 citedOpen Access
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Human Mutation·2022· 60 citedOpen Access
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
European Journal of Human Genetics·2021· 1 citedOpen Access
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes
Scientific Reports·2021· 14 citedOpen Access
Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta)
PLoS Genetics·2020· 23 citedOpen Access
gemBS: high throughput processing for DNA methylation data from bisulfite sequencing
Bioinformatics·2018· 75 cited
Similar genomic proportions of copy number variation within gray wolves and modern dog breeds inferred from whole genome sequencing
BMC Genomics·2017· 32 citedOpen Access
GEMBS – high through-put processing for DNA methylation data from Whole Genome Bisulfite Sequencing (WGBS)
2017· 6 citedOpen Access
Issue Information
Human Mutation·2016Open Access
From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
Human Mutation·2016· 63 citedOpen Access
The interplay between DNA methylation and sequence divergence in recent human evolution
Nucleic Acids Research·2015· 79 citedOpen Access
Extreme selective sweeps independently targeted the X chromosomes of the great apes
Proceedings of the National Academy of Sciences·2015· 91 citedOpen Access
The interplay between DNA methylation and sequence divergence in recent human evolution
2015· 4 citedOpen Access
Gibbon genome and the fast karyotype evolution of small apes
Nature·2014· 388 citedOpen Access
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Frequent Co-authors

Marta Gut(21), Tomàs Marquès‐Bonet(12), Steven Laurie(10), Sergi Beltrán(10), Javier Prado-Martinez(8), Arcadi Navarro(8), Belén Lorente-Galdós(7), Irene Hernando-Herraez(6), Leslie Matalonga(6), Holm Graeßner(6), Birte Zurek(6), Simon Heath(5), Ida Paramonov(5), Ana Rath(5), Olaf Rieß(5), Dylan Spalding(5), Ana Töpf(5), Kornelia Ellwanger(5), Anthony J. Brookes(5), Colin Veal(5)