Author

Michele Patricia Migliavacca

DASA (Brazil)ORCID 0000-0003-0405-6039Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:experimental assay· 2 Research Focus:benchmarking· 1

Frequent Co-Authors

Ana Cristina Victorino KrepischiiD· 2 shared Anne Caroline Barbosa TeixeiraiD· 2 shared Antônio Victor Campos CoelhoiD· 2 shared Caio Robledo D’Angioli Costa QuaioiD· 2 shared Carla RosenbergiD· 2 shared Carolina MorenoiD· 2 shared Darine VillelaiD· 2 shared Eduardo PerroneiD· 2 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Ana Cristina Victorino KrepischiORCID

Mutual co-authors in cluster

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4 papers

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedMay 4, 2026

Whole Genome Sequencing for the Diagnosis of Rare Disorders

Antônio Victor Campos Coelho, Rafael Sales de Albuquerque, Catarina dos Santos Gomes…·Joao Bosco Oliveira

This study evaluates the diagnostic yield of whole-genome sequencing in 8966 patients with suspected rare diseases, finding a 35.8% diagnostic rate and additional variant detection.

DOI 10.1016/j.xhgg.2026.100624

humanwhole-genome sequencing

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Genetic & Genomic MedicineJournal of Human GeneticsPeer-reviewedMay 18, 2025

ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencing

Eduardo Perrone, Luiza do Amaral Virmond, Antônio Victor Campos Coelho…·Tatiana Ferreira de Almeida

The paper analyzes ACMG secondary findings in 5,402 Brazilian genomes, finding 3.6% had pathogenic variants, mainly in cardiovascular and cancer-related genes.

5 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicineAnnals of Human GeneticsPeer-reviewedOct 9, 2023

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa…·Carla Rosenberg

This study validates low-pass whole genome sequencing as a reliable and cost-effective method for detecting copy number variants in clinical settings.

17 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicineScientific ReportsPeer-reviewedSep 7, 2022

Chromosomal microarray analyses from 5,778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Ana Cristina Victorino Krepischi, Darine Villela, Silvia Souza da Costa…·Carla Rosenberg

This study analyzes chromosomal microarray data from 5,778 Brazilian patients with neurodevelopmental disorders and congenital anomalies to assess genetic bases and evaluate cost-effectiveness of variant analysis.

22 citations

humanexperimental assay

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