Author

Bala Anı Akpınar

University of HelsinkiORCID 0000-0001-6863-7436Unclaimed 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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Cory D. DunniD· 1 shared Paul CarlsoniD· 1 shared Ville O. PaavilaineniD· 1 shared

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2020-2020 · peak 1/yr

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1 shared paperGenomics

Cory D. DunnORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintJan 10, 2020

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.

DOI 10.1101/2020.01.10.902239

humanwhole-genome sequencing

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