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Not by systems alone: identifying functional outliers in rare disease pedigrees
Sara Ballouz, Max Dörfel, Jonathan Crain, Megan Crow, Laurence Faivre, Catherine E. Keegan, Sophia Kitsiou-Tzeli, Maria Tzetis, Gholson J. Lyon, Jesse Gillis
doi: https://doi.org/10.1101/128439
Sara Ballouz
1The Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
Max Dörfel
1The Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
Jonathan Crain
1The Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
Megan Crow
1The Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
Laurence Faivre
2GAD team, INSERM UMR 1231, Université Bourgogne Franche-Comté, Dijon, France
3Centre de Référence Maladies Rares Anomalies du Développement et FHU TRANSLAD, CHU Dijon, Dijon, France
Catherine E. Keegan
4Department of Pediatrics, Division of Genetics and Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
Sophia Kitsiou-Tzeli
5Department of Medical Genetics, National Kapodistrian University of Athens, Athens, Greece
Maria Tzetis
5Department of Medical Genetics, National Kapodistrian University of Athens, Athens, Greece
Gholson J. Lyon
1The Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
6Graduate Genetics Program, Stony Brook University, Stony Brook, NY, 11794, USA
7Utah Foundation for Biomedical Research, Salt Lake City, UT, 84107, USA
Jesse Gillis
1The Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA
Article usage
Posted April 18, 2017.
Not by systems alone: identifying functional outliers in rare disease pedigrees
Sara Ballouz, Max Dörfel, Jonathan Crain, Megan Crow, Laurence Faivre, Catherine E. Keegan, Sophia Kitsiou-Tzeli, Maria Tzetis, Gholson J. Lyon, Jesse Gillis
bioRxiv 128439; doi: https://doi.org/10.1101/128439
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