Author

Andrés Santos

Universitat Autònoma de BarcelonaORCID 0000-0001-7576-0504Unclaimed ORCID profile · follow to get notified of new preprints

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Andrés Santos1 paper

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Illya YakymenkoiD· 1 shared Jaime Martínez-UrtazaiD· 1 shared Konstantinos KarakostisiD· 1 shared Maria Díaz-Ros· 1 shared Mario CáceresiD· 1 shared Marta PuigiD· 1 shared Miquel Àngel SenariD· 1 shared Oscar Conchillo‐SoléiD· 1 shared

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2025-2025 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperGenomics

Illya YakymenkoORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintMay 27, 2025

Resolving the full set of human polymorphic inversions and other complex variants from ultra-long read data

Ricardo Moreira-Pinhal, Konstantinos Karakostis, Illya Yakymenko…·Mario Cáceres

The paper identifies 612 human inversion variants using ultra-long read sequencing and develops a bioinformatic tool to genotype them across 54 individuals.

DOI 10.1101/2025.05.27.656315

humanlong-read sequencing

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