Author

Cristina Maria Pereira dos Santos

Universitat Autònoma de BarcelonaORCID 0000-0002-7014-8014Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:DNA methylation· 2 Approach:experimental assay· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amanda RamosiD· 2 shared María Pilar AlujaiD· 2 shared Ana María SilvaiD· 1 shared Anne‐France MaureriD· 1 shared Assumpció Malgosa MoreraiD· 1 shared Bastien LlamasiD· 1 shared Christian HaarkötteriD· 1 shared D. Nuñez Jurado· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetics

Amanda RamosORCID

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3 papers

Recent·Most cited

Optimised in-solution enrichment of over a million ancient human SNPs

Roberta Davidson, Xavier Roca‐Rada, Shyamsundar Ravishankar, Leonard Taufik, Christian Haarkötter, Evelyn Collen, Matthew P. Williams, Peter Webb, M. Irfan Mahmud, Erlin Novita Idje Djami, Gludhug A. Purnomo, Cristina Maria Pereira dos Santos, Assumpció Malgosa Morera, Linda Manzanilla, Ana María Silva, , Bastien Llamas

This study evaluates the effectiveness of the Twist Ancient DNA reagent for enriching ancient human SNPs, finding it robust for up to 27% endogenous DNA content with two rounds of enrichment.

bioRxiv · May 16, 2024 · PreprintGenomics

The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction

Miriam Umbria, Amanda Ramos, María Pilar Aluja, Cristina Maria Pereira dos Santos

This study investigates the role of mitochondrial DNA control region mutations in stroke and myocardial infarction, identifying several SNPs as potential genetic risk or protective factors.

Scientific Reports · Feb 17, 2020Peer-reviewedGenetics

Reappraising the human mitochondrial DNA recombination dogma

Simόn Perera, Amanda Ramos, Luis Álvarez, D. Nuñez Jurado, Maria Guardiola-Ripoll, Manuela Caroline Ferreira Lima, María Pilar Aluja, Cristina Maria Pereira dos Santos

This study provides direct and indirect evidence of frequent mtDNA recombination in humans, challenging the non-recombination dogma and its implications for evolutionary history and disease.

bioRxiv · Apr 19, 2018 · PreprintMolecular Biology