Author

Bárbara Carvalho Santos dos Reis

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes FigueiraORCID 0000-0001-9725-9665Unclaimed 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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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

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Adam KlocperkiD· 1 shared Adam S L GraefeiD· 1 shared Andrés Caballero-OteyzaiD· 1 shared Angela MarcelloiD· 1 shared Ben D ColemaniD· 1 shared Catharina SchuetziD· 1 shared Chris MungalliD· 1 shared Damian P. SmedleyiD· 1 shared

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1 shared paperGenetic & Genomic Medicine

Adam KlocperkORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedOct 10, 2024

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

Daniel Daniš, Michael J Bamshad, Yasemin Bridges…·Peter N. Robinson

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.

20 citationstop 3%

database / resourcebenchmarking

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