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UCL Queen Square Institute of Neurology

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Genetic & Genomic Medicine· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alejandro Martin-TrujilloiD· 1 shared Andrea CorteseiD· 1 shared Andrew J. SharpiD· 1 shared Anupriya DalmiaiD· 1 shared Arianna TucciiD· 1 shared Bharati Jadhav· 1 shared Chiara Marini‐BettoloiD· 1 shared Chris Turner· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Alejandro Martin-TrujilloORCID

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1 paper

Recent·Most cited

Increased frequency of repeat expansion mutations across different populations

Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J. Hensman Moss, Jana Vandrovcová, Clarissa Rocca, Loukas Moutsianas, , Arianna Tucci

The paper estimates the frequency of repeat expansion mutations across populations using whole genome sequencing data and finds higher expected prevalence than current reports.

Nature Medicine · Oct 1, 2024Peer-reviewedGenetic & Genomic Medicine