Author

Paul Carlson

University of HelsinkiORCID 0000-0002-3689-6481Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Organism:human· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

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Bala Anı AkpınariD· 1 shared Cory D. DunniD· 1 shared Ville O. PaavilaineniD· 1 shared

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2020-2020 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenomics

Bala Anı AkpınarORCID

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1 paper

Recent·Most cited

A novel phylogenetic analysis and machine learning predict pathogenicity of human mtDNA variants

Bala Anı Akpınar, Paul Carlson, Ville O. Paavilainen, Cory D. Dunn

This study uses phylogenetic analysis and machine learning to predict the pathogenicity of human mtDNA variants, finding many previously uncharacterized variants are likely deleterious.

bioRxiv · Jan 10, 2020 · PreprintGenomics