Author

Matteo Accetturo

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Biology Disciplines

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Bioinformatics· 1

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 Angela Maria D’UggentoiD· 1 shared Piero PortincasaiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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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

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%.

bioRxiv · Jan 28, 2019 · PreprintBioinformatics