Author

Misha D. Rashkin

Helix (United States)ORCID 0000-0002-5413-3533Unclaimed 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· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre BolzeiD· 2 shared James T. LuiD· 2 shared Joseph J. GrzymskiiD· 2 shared Nicole L. WashingtoniD· 2 shared William J. Metcalf· 2 shared Andrew Dei Rossi· 1 shared Anthony D. SlonimiD· 1 shared Bruce Lipp· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Alexandre BolzeORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintJun 26, 2020

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans

Alexandre Bolze, Fernando Luis Mendez, Simon White…·Nicole L. Washington

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

58 citations

humanDNA methylation

GeneticsbioRxivPreprintMay 27, 2019

Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed

Joseph J. Grzymski, Gai Elhanan, E Smith…·James T. Lu

The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.

11 citations

humanwhole-exome sequencing