Author

Ethan Steinberg

Stanford UniversityORCID 0000-0001-7166-5032Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:statistical model· 2 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cole A. DeisserothiD· 2 shared D.N. CooperiD· 2 shared Gill BejeranoiD· 2 shared Johannes A. BirgmeieriD· 2 shared Jonathan Adam BernsteiniD· 2 shared Karthik A. JagadeeshiD· 2 shared Peter D. Stenson· 2 shared Aaron M. WengeriD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Cole A. DeisserothORCID

Mutual co-authors in cluster

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2 papers

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

AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

Johannes A. Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Ethan Steinberg, Karthik A. Jagadeesh, Alexander Ratner, Harendra Guturu, Aaron M. Wenger, Mark Diekhans, Peter D. Stenson, D.N. Cooper, Christopher Ré, Alan H. Beggs, Jonathan Adam Bernstein, Gill Bejerano

AMELIE 2 improves Mendelian disorder diagnosis by matching patient phenotypes and genotypes to primary literature, achieving high accuracy and efficiency.

Science Translational Medicine · May 20, 2020Peer-reviewedGenetics