Author

Juan Pablo Ochoa

Spanish National Centre for Cardiovascular ResearchORCID 0000-0002-7966-0313Unclaimed ORCID profile · follow to get notified of new preprints

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Juan Pablo Ochoa1 paper · Health in Code SL;

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

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Ahmad S. AminiD· 1 shared Alex LipoviD· 1 shared Ammar Al‐ChalabiiD· 1 shared Andrew A. GraceiD· 1 shared Andrew Michael GlazeriD· 1 shared Antoine LeenhardtiD· 1 shared Apichai KhongphatthanayothiniD· 1 shared Arjan C. HouwelingiD· 1 shared

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2026-2026 · peak 1/yr

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1 shared paperGenetic & Genomic Medicine

Ahmad S. AminORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 10, 2026

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, Manon Baudic, Pierre Lindenbaum…·Connie R. Bezzina

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

DOI 10.64898/2026.07.07.26356386

humanwhole-genome sequencing

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