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Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients
Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah Einson, Christina Sousa, Paul Hoffman, Sandra Donkervoort, Payam Mohassel, Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bonnemann, Daniel G. MacArthur, Tuuli Lappalainen
doi: https://doi.org/10.1101/632794
Pejman Mohammadi
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
3Scripps Research Translational Institute, La Jolla, CA, USA
4Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA
Stephane E. Castel
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
Beryl B. Cummings
5Analytical and Translation Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
6Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Jonah Einson
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
Christina Sousa
3Scripps Research Translational Institute, La Jolla, CA, USA
4Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA
Paul Hoffman
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
Sandra Donkervoort
7Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Payam Mohassel
7Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Reghan Foley
7Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Heather E. Wheeler
8Department of Biology, Loyola University Chicago, Chicago, IL, USA
9Department of Computer Science, Loyola University Chicago, Chicago, IL, USA
Hae Kyung Im
10Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA
Carsten G. Bonnemann
7Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Daniel G. MacArthur
5Analytical and Translation Genetics Unit, Massachusetts General Hospital, Boston, MA, USA
6Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Tuuli Lappalainen
1New York Genome Center, New York, NY, USA
2Department of Systems Biology, Columbia University, New York, NY, USA
Posted May 09, 2019.
Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients
Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah Einson, Christina Sousa, Paul Hoffman, Sandra Donkervoort, Payam Mohassel, Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bonnemann, Daniel G. MacArthur, Tuuli Lappalainen
bioRxiv 632794; doi: https://doi.org/10.1101/632794
Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients
Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah Einson, Christina Sousa, Paul Hoffman, Sandra Donkervoort, Payam Mohassel, Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bonnemann, Daniel G. MacArthur, Tuuli Lappalainen
bioRxiv 632794; doi: https://doi.org/10.1101/632794
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