Author

Stan F. Nelson

University of California, Los Angeles

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

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christina G.S. PalmeriD· 1 shared Christine M. EngiD· 1 shared Cole A. DeisserothiD· 1 shared D.N. CooperiD· 1 shared David R. AdamsiD· 1 shared Devon E. BonneriD· 1 shared Elizabeth A. WortheyiD· 1 shared Ethan E. BodleiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Christina G.S. PalmerORCID

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1 paper

Recent·Most cited

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

Johannes A. Birgmeier, Ethan Steinberg, Ethan E. Bodle, Cole A. Deisseroth, Karthik A. Jagadeesh, Jennefer N. Kohler, Devon E. Bonner, Shruti Marwaha, Julián A. Martínez-Agosto, Stan F. Nelson, Christina G.S. Palmer, Joy D. Cogan, Rizwan Hamid, Joan Marilyn Stoler, Joel B. Krier, , Gill Bejerano

AMELIE 3 automatically reanalyzes undiagnosed Mendelian disease patients using new literature, achieving 80% diagnostic yield with 0.5-1 alerts per patient per year.

medRxiv · Dec 29, 2020 · PreprintGenetic & Genomic Medicine