Author

Matheus Martinelli Lima

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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

Whole Genome Sequencing for the Diagnosis of Rare Disorders

Antônio Victor Campos Coelho, Rafael Sales de Albuquerque, Catarina dos Santos Gomes, José Bandeira do Nascimento Junior, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Luciana Souto Mofatto, Rafael Lucas Muniz Guedes, Rodrigo Barreiro, Marcel Pinheiro Caraciolo, Ana Paula de Andrade Oliveira, Anne Caroline Barbosa Teixeira, Bruna Mascaro Cordeiro de Azevedo, Carolina Dias Carlos, Lucas Santos de Santana, , 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.

Human Genetics and Genomics Advances · May 4, 2026Peer-reviewedGenetic & Genomic Medicine