Author

Susana Lopez-Ignacio

University of Colorado AnschutzORCID 0009-0006-2222-0727Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Akshay Kumar AvvaruiD· 1 shared Anna M. DischleriD· 1 shared Caroline DiasiD· 1 shared Cristina Lau· 1 shared Harriet DashnowiD· 1 shared Martin W. BreussiD· 1 shared Verónica Martínez‐CerdeñoiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Akshay Kumar AvvaruORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintOct 7, 2025

Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain

Anna M. Dischler, Akshay Kumar Avvaru, Susana Lopez-Ignacio…·Caroline Dias

This study uses long-read sequencing to reveal extensive somatic mosaicism in FMR1 repeats and methylation in FXTAS brain tissue, identifying expansions and contractions beyond traditional methods' resolution.

3 citations

humanwhole-genome sequencing

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