Author

Uirá Souto Melo

Max Planck Institute for Molecular GeneticsORCID 0000-0003-4065-8635Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jakob HertzbergiD· 1 shared Lion Ward Al Raei· 1 shared M-Hossein MoeinzadehiD· 1 shared Marco SavareseiD· 1 shared Martin VingroniD· 1 shared Maryam GhareghaniiD· 1 shared Nico AlaviiD· 1 shared Paolo Infantino· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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9 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Jakob HertzbergORCID

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintMay 21, 2025

Accurate detection of pathogenic structural variants guided by multi-platform comparison

Nico Alavi, M-Hossein Moeinzadeh, Jakob Hertzberg…·Martin Vingron

The paper introduces dicast, a machine-learning method that improves the detection of pathogenic structural variants from short-read sequencing by leveraging genomic context and alignment features.

DOI 10.1101/2025.05.21.655285

humanwhole-genome sequencing

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