Author

Valeria Novelli

Centro Cardiologico MonzinoORCID 0000-0002-4859-0826Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Amy Curry SturmiD· 1 shared Andrew Fleming· 1 shared Andrew Paul LandstromiD· 1 shared Angharad M. RobertsiD· 1 shared Arnon AdleriD· 1 shared Arthur A.M. WildeiD· 1 shared Babken AsatryaniD· 1 shared Bert Louis CallewaertiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy Curry SturmORCID

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1 paper

Recent·Most cited

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. Josephs, Angharad M. Roberts, Pantazis I. Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie E. Care, Wojciech Zaręba, Arnon Adler, Amy Curry Sturm, Rafik Tadros, Valeria Novelli, , James S. Ware

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

Genome Medicine · Oct 23, 2023Peer-reviewedGenetic & Genomic Medicine