Author

Nico Alavi

Max Planck Institute for Molecular GeneticsORCID 0000-0002-4621-8879Unclaimed ORCID profile · follow to get notified of new preprints

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Nico Alavi1 paper · Leibniz Institute for Neurobiology

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Bioinformatics· 1

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

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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 Paolo Infantino· 1 shared Stefan MundlosiD· 1 shared

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2025-2025 · peak 1/yr

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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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