Author

Daniel Birnbaum

Broad InstitutePrimary ORCID profile (0000-0001-7920-9883 · 2 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

Daniel BirnbaumiD2 papers · Centre National de la Recherche Scientifique

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:variant calling· 3 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Monkol LekiD· 3 shared Ben WeisburdiD· 2 shared Fengmei ZhaoiD· 2 shared Taru TukiaineniD· 2 shared Adam BournazosiD· 1 shared Adam Kiezun· 1 shared Aileen Reghan FoleyiD· 1 shared Alan H. BeggsiD· 1 shared

Activity by Year

2016-2017 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenomics

Monkol LekORCID

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Author profile →

3 papers

Recent·Most cited

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra C. Donkervoort, Aileen Reghan Foley, Véronique Bolduc, Leigh B. Waddell, Sarah A. Sandaradura, Gina L. O’Grady, Elicia A. Estrella, Hemakumar M. Reddy, Fengmei Zhao, Ben Weisburd, Konrad J. Karczewski, , Daniel G. MacArthur

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.

Science Translational Medicine · Apr 19, 2017Peer-reviewedGenomics

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

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Monkol Lek, Konrad Karczewski, Eric Minikel, Kaitlin Samocha, Eric Banks, Timothy Fennell, Anne O'Donnell-Luria, James Ware, Andrew Hill, Beryl Cummings, Taru Tukiainen, Daniel Birnbaum, Jack Kosmicki, Laramie Duncan, , Douglas

This paper analyzes protein-coding genetic variation in 60,706 humans to catalog diversity, assess pathogenicity, and identify genes under strong selection.

Nature · Aug 17, 2016Peer-reviewedGenomics