Author

Alexander Andreas Navarini

University Hospital of BaselORCID 0000-0001-7059-632XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

Frequent Co-Authors

Adhideb GhoshiD· 1 shared Andrew L. WrightiD· 1 shared Angela Pushpa‐RajahiD· 1 shared Anthony BewleyiD· 1 shared Arthur David BurdeniD· 1 shared Catherine H. SmithiD· 1 shared Charlotte ChaloneriD· 1 shared Christopher E.M. GriffithsiD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperBioinformatics

Adhideb GhoshORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 5, 2020

Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease

Marta Vergnano, Maja Mockenhaupt, Natashia Benzian-Olsson…·Angela Pushpa‐Rajah

The paper identifies MPO mutations as genetic determinants of pustular skin disease and increased neutrophil counts through exome sequencing and UK Biobank analysis.

74 citationstop 2%

humanwhole-exome sequencing

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BioinformaticsbioRxivPreprintApr 3, 2020

Biological function polarity prediction of missense variants using machine learning

Adhideb Ghosh, Alexander Andreas Navarini

This paper develops a machine learning classifier to predict whether missense variants cause gain or loss of protein function, achieving high accuracy on independent data.

DOI 10.1101/2020.04.03.023440

humanwhole-exome sequencing

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