Author

Magnus Isaksson

Helix (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetics· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Elizabeth T. CirulliiD· 2 shared Francisco TanudjajaiD· 2 shared James T. LuiD· 2 shared Joseph J. GrzymskiiD· 2 shared Nicole L. WashingtoniD· 2 shared Simon WhiteiD· 2 shared William J. Metcalf· 2 shared Alexandre BolzeiD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Elizabeth T. CirulliORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans

Alexandre Bolze, Fernando Luis Mendez, Simon White, Francisco Tanudjaja, Magnus Isaksson, Ruomu Jiang, Andrew Dei Rossi, Elizabeth T. Cirulli, Misha D. Rashkin, William J. Metcalf, Joseph J. Grzymski, William Lee, James T. Lu, 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.

bioRxiv · Jun 26, 2020 · PreprintGenetics

Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes

Elizabeth T. Cirulli, Simon White, Robert W. Read, Gai Elhanan, William J. Metcalf, Francisco Tanudjaja, Donna M. Fath, Efren Sandoval, Magnus Isaksson, Karen A. Schlauch, Joseph J. Grzymski, James T. Lu, Nicole L. Washington

The paper analyzes rare variants in 54,000 exomes across 3,166 phenotypes, identifying 78 gene-based associations with significant effects on human traits.

Nature Communications · Jan 28, 2020Peer-reviewedGenetics