New Results
Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
View ORCID ProfileEvan K. Maxwell, Jonathan S. Packer, Colm O’Dushlaine, Shane E. McCarthy, Abby Hare-Harris, Jeffrey Staples, Claudia Gonzaga-Jauregui, Samantha N. Fetterolf, W. Andrew Faucett, Joseph B. Leader, Andres Moreno-De-Luca, Giusy Della Gatta, Margaret Scollan, Trikaldarshi Persaud, John Penn, Alicia Hawes, Xiaodong Bai, Sarah Wolf, Alexander E. Lopez, Rick Ulloa, Christopher Sprangel, Rostislav Chernomorsky, Ingrid B. Borecki, Frederick E. Dewey, Aris N. Economides, John D. Overton, H. Lester Kirchner, Michael F. Murray, Marylyn D. Ritchie, David J. Carey, David H. Ledbetter, George D. Yancopoulos, Alan R. Shuldiner, Aris Baras, Omri Gottesman, Lukas Habegger, Christa Lese Martin, Jeffrey G. Reid
doi: https://doi.org/10.1101/119461
Evan K. Maxwell
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Jonathan S. Packer
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Colm O’Dushlaine
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Shane E. McCarthy
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Abby Hare-Harris
2Geisinger Health System, Danville, PA, 17822
Jeffrey Staples
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Claudia Gonzaga-Jauregui
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Samantha N. Fetterolf
2Geisinger Health System, Danville, PA, 17822
W. Andrew Faucett
2Geisinger Health System, Danville, PA, 17822
Joseph B. Leader
2Geisinger Health System, Danville, PA, 17822
Andres Moreno-De-Luca
2Geisinger Health System, Danville, PA, 17822
Giusy Della Gatta
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Margaret Scollan
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Trikaldarshi Persaud
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
John Penn
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Alicia Hawes
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Xiaodong Bai
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Sarah Wolf
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Alexander E. Lopez
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Rick Ulloa
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Christopher Sprangel
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Rostislav Chernomorsky
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Ingrid B. Borecki
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Frederick E. Dewey
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Aris N. Economides
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
John D. Overton
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
H. Lester Kirchner
2Geisinger Health System, Danville, PA, 17822
Michael F. Murray
2Geisinger Health System, Danville, PA, 17822
Marylyn D. Ritchie
2Geisinger Health System, Danville, PA, 17822
David J. Carey
2Geisinger Health System, Danville, PA, 17822
David H. Ledbetter
2Geisinger Health System, Danville, PA, 17822
George D. Yancopoulos
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Alan R. Shuldiner
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Aris Baras
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Omri Gottesman
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Lukas Habegger
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Christa Lese Martin
2Geisinger Health System, Danville, PA, 17822
Jeffrey G. Reid
1Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, 10591
Article usage
Posted March 22, 2017.
Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
Evan K. Maxwell, Jonathan S. Packer, Colm O’Dushlaine, Shane E. McCarthy, Abby Hare-Harris, Jeffrey Staples, Claudia Gonzaga-Jauregui, Samantha N. Fetterolf, W. Andrew Faucett, Joseph B. Leader, Andres Moreno-De-Luca, Giusy Della Gatta, Margaret Scollan, Trikaldarshi Persaud, John Penn, Alicia Hawes, Xiaodong Bai, Sarah Wolf, Alexander E. Lopez, Rick Ulloa, Christopher Sprangel, Rostislav Chernomorsky, Ingrid B. Borecki, Frederick E. Dewey, Aris N. Economides, John D. Overton, H. Lester Kirchner, Michael F. Murray, Marylyn D. Ritchie, David J. Carey, David H. Ledbetter, George D. Yancopoulos, Alan R. Shuldiner, Aris Baras, Omri Gottesman, Lukas Habegger, Christa Lese Martin, Jeffrey G. Reid
bioRxiv 119461; doi: https://doi.org/10.1101/119461
Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
Evan K. Maxwell, Jonathan S. Packer, Colm O’Dushlaine, Shane E. McCarthy, Abby Hare-Harris, Jeffrey Staples, Claudia Gonzaga-Jauregui, Samantha N. Fetterolf, W. Andrew Faucett, Joseph B. Leader, Andres Moreno-De-Luca, Giusy Della Gatta, Margaret Scollan, Trikaldarshi Persaud, John Penn, Alicia Hawes, Xiaodong Bai, Sarah Wolf, Alexander E. Lopez, Rick Ulloa, Christopher Sprangel, Rostislav Chernomorsky, Ingrid B. Borecki, Frederick E. Dewey, Aris N. Economides, John D. Overton, H. Lester Kirchner, Michael F. Murray, Marylyn D. Ritchie, David J. Carey, David H. Ledbetter, George D. Yancopoulos, Alan R. Shuldiner, Aris Baras, Omri Gottesman, Lukas Habegger, Christa Lese Martin, Jeffrey G. Reid
bioRxiv 119461; doi: https://doi.org/10.1101/119461
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