Author

José Leonel Buzzo

Universidade de São PauloORCID 0000-0003-1881-7396Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 4 Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Fernanda Orpinelli Ramos do Rego· 4 shared Pedro A. F. GalanteiD· 4 shared Thiago L. A. MilleriD· 4 shared Rafael L. V. MercuriiD· 2 shared Alain R. SarasiniD· 1 shared Andréia S. SouzaiD· 1 shared Bernardo Lessa HortaiD· 1 shared Camila CorradiiD· 1 shared

Activity by Year

2020-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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4 shared papersBioinformatics

Fernanda Orpinelli Ramos do Rego

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4 papers

Recent·Most cited

BioinformaticsbioRxivPreprintAug 25, 2023

Sandy: A user-friendly and versatile NGS simulator to facilitate sequencing assay design and optimization

Thiago L. A. Miller, Helena B. Conceição, Rafael L. V. Mercuri…·Pedro A. F. Galante

Sandy generates synthetic NGS reads to help design and optimize sequencing assays by simulating various data features and answering key analytical questions.

5 citations

whole-genome sequencingbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineCarcinogenesisPeer-reviewedMay 17, 2023

Mutational signatures and increased retrotransposon insertions in Xeroderma Pigmentosum variant skin tumors

Camila Corradi, Juliana Brandstetter Vilar, Vanessa Candiotti Buzatto…·Carlos Frederico Martins Menck

The paper identifies mutational signatures and retrotransposon insertions in XP-V skin tumors, linking them to UV exposure and tobacco use, and suggests immunotherapy potential.

12 citations

humanwhole-exome sequencing

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GenomicsNature CommunicationsPeer-reviewedMar 4, 2022

Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (Sao Paulo, Brazil)

Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto…·Mayana Zatz

This study presents a high-coverage whole-genome sequencing dataset of 1,171 admixed elderly Brazilians, identifying novel variants and demonstrating the utility of WGS for genomic and clinical research in underrepresented populations.

160 citationstop 1%

humanwhole-genome sequencing

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BioinformaticsBioinformaticsPeer-reviewedJul 23, 2020

sideRETRO: a pipeline for identifying somatic and dimorphic insertions of processed pseudogenes or retrocopies

Thiago L. A. Miller, Fernanda Orpinelli Ramos do Rego, José Leonel Buzzo, Pedro A. F. Galante

sideRETRO identifies and genotypes somatic and dimorphic retroCNVs from whole-genome or whole-exome sequencing data with high accuracy.

11 citations

whole-genome sequencingwhole-exome sequencing

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