Author

Darine Villela

DASA (Brazil)ORCID 0000-0002-5930-5269Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Rodrigo Guarischi‐SousaiD· 3 shared Adriano Bonaldi· 2 shared Ana Cristina Victorino KrepischiiD· 2 shared Camila Alves SouzaiD· 2 shared Carla RosenbergiD· 2 shared Cristovam Scapulatempo‐NetoiD· 2 shared Fernanda Milanezi· 2 shared José Eduardo KrolliD· 2 shared

Activity by Year

2022-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Rodrigo Guarischi‐SousaORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

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 MedicinemedRxivPreprintMar 28, 2023

HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad's myChoice(R), SOPHiA GENETICS SOPHiA Homologous Recombination Solution(R) and AmoyDx HRD Focus Panel(R)

Rodrigo Guarischi‐Sousa, José Eduardo Kroll, Adriano Bonaldi…·Guilherme Lopes Yamamoto

HRD-One provides a reproducible HRD score with high concordance to myChoice(R) and identifies HRD in ovarian cancer samples with and without BRCA1/2 mutations.

4 citations

humanwhole-exome 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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