Author

Juan Francisco Miquel

Pontificia Universidad Católica de ChileORCID 0000-0002-0526-4377Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 4 Research Focus:variant calling· 3 Research Focus:differential expression· 2 Approach:machine learning (classical)· 2 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Research Focus:genome assembly· 1

Frequent Co-Authors

Alex Di GenovaiD· 3 shared Carol MoragaiD· 3 shared Eduardo Pérez‐PalmaiD· 3 shared Giancarlo V De FerrariiD· 3 shared Peter NürnbergiD· 3 shared Bernabé I. BustosiD· 2 shared Eleodoro RiverasiD· 2 shared Jochen HampeiD· 2 shared

Activity by Year

2017-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersBioinformatics

Alex Di GenovaORCID

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5 papers

Recent·Most cited

BioinformaticsbioRxivPreprintJan 30, 2026

Accurate haplotype-resolved de novo assembly of human genomes with RFhap

Damariz Gonzalez, Gabriel Cabas, Juan Francisco Miquel…·Alex Di Genova

RFhap improves haplotype-resolved de novo assembly of human genomes by enhancing phasing accuracy and reducing errors compared to existing methods.

DOI 10.64898/2026.01.28.702238

humanlong-read sequencing

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Genetic & Genomic MedicinemedRxivPreprintSep 25, 2024

A workflow for clinical profiling of BRCA genes in Chilean breast cancer patients via targeted sequencing

Evelin Gonzalez, Rodrigo Moreno Salinas, Manuel Muñoz…·Alex Di Genova

The paper develops a Nextflow pipeline for BRCA1/2 variant detection in Chilean breast cancer patients using targeted sequencing and variant callers, identifying one pathogenic variant among 16 samples.

DOI 10.1101/2024.09.25.24314295

humanwhole-exome sequencing

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GenomicsScientific ReportsPeer-reviewedFeb 14, 2019

Whole genome sequence of Mapuche-Huilliche Native Americans

Elena A. Vidal, Tomás C. Moyano, Bernabé I. Bustos…·Rodrigo A. Gutiérrez

The paper presents the whole genome sequences of 11 Mapuche-Huilliche individuals, identifying novel variants and structural events, and highlights their potential relevance to disease susceptibility in admixed populations.

20 citations

humanwhole-genome sequencing

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GeneticsScientific ReportsPeer-reviewedJan 28, 2019

Common variants in ABCG8 and TRAF3 genes confer risk for gallstone disease and gallbladder cancer in admixed Latinos with Mapuche Native American ancestry

Bernabé I. Bustos, Eduardo Pérez‐Palma, Stephan Buch…·Juan Francisco Miquel

84 citationstop 3%

humanGWAS summary statistics

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GeneticsbioRxivPreprintApr 27, 2017

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

Eduardo Pérez‐Palma, Ingo Helbig, Karl Martin Klein…·Dennis Lal

This study examines the role of microdeletions in different epilepsy subtypes, finding enriched contributions in Genetic Generalized Epilepsy but not in Rolandic or Adult Focal Epilepsy.

DOI 10.1101/131359

humanstatistical model

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