Author

Douglas M Ruderfer

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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Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Tymor Hamamsy· 2 shared A. Ercument Cicek· 1 shared Aaron Topol· 1 shared Andrew Browne· 1 shared Andrew Chess· 1 shared Ben ReadheadiD· 1 shared Ben WeisburdiD· 1 shared Benjamin A Logsdon· 1 shared

Activity by Year

2016-2016 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenomics

Tymor Hamamsy

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2 papers

Recent·Most cited

The ExAC Browser: Displaying reference data information from over 60,000 exomes

Konrad J Karczewski, Ben Weisburd, Brett Thomas, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J Daly, Daniel G MacArthur

The paper introduces an open-source browser for displaying genetic variation data from 60,706 exomes, focusing on variant interpretation and gene function.

Nucleic Acids Research · Nov 28, 2016Peer-reviewedGenomics

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

Menachem Fromer, Panos Roussos, Solveig K Sieberts, Jessica S Johnson, David H Kavanagh, Thanneer M Perumal, Douglas M Ruderfer, Edwin C Oh, Aaron Topol, Hardik R Shah, Lambertus L Klei, Robin Kramer, Dalila Pinto, Zeynep H Gumus, A. Ercument Cicek, , Lara M Mangravit

The paper uses gene expression data from schizophrenia cases and controls to show that common variants at 20% of schizophrenia risk loci regulate brain gene expression, with functional impacts on neural progenitor cells and zebrafish neuroanatomy.

bioRxiv · May 9, 2016Genomics