Author

Angela Maria D’Uggento

University of Bari Aldo MoroORCID 0000-0001-9768-651XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alessandro StellaiD· 1 shared Matteo Accetturo· 1 shared Piero PortincasaiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

3 top collaborators · 3 mutual co-author links

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1 shared paperBioinformatics

Alessandro StellaORCID

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintJan 28, 2019

RE-EVALUATION OF MEFV GENE VARIANTS: UTILITY OF A GENE SPECIFIC THRESHOLD IN REDUCING THE NUMBER OF VARIANTS OF UNKNOWN SIGNIFICANCE

Matteo Accetturo, Angela Maria D’Uggento, Piero Portincasa, Alessandro Stella

The paper evaluates MEFV gene variants using REVEL scores to establish a gene-specific threshold, reducing variants of uncertain significance from 61.6% to 17.6%.

DOI 10.1101/532804

humanDNA methylation

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