Author

Luciana Souto Mofatto

ORCID 0000-0002-2087-7251Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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 calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ana Luíza Garcia CunhaiD· 1 shared Ana Paula de Andrade OliveiraiD· 1 shared Anete Sevciovic GrumachiD· 1 shared Angelina Xavier AcostaiD· 1 shared Anna Candida Ximenes de Mendonça SobreiraiD· 1 shared Anne Caroline Barbosa TeixeiraiD· 1 shared Antonette Souto El HusnyiD· 1 shared Antônio Victor Campos CoelhoiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ana Luíza Garcia CunhaORCID

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1 paper

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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