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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
View ORCID ProfileColleen M. Carlston, View ORCID ProfileAnne H. O’Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, View ORCID ProfileBen Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Exome Aggregation Consortium, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao
doi: https://doi.org/10.1101/090720
Colleen M. Carlston
1Department of Pathology, University of Utah, Salt Lake City, UT
2ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT
Anne H. O’Donnell-Luria
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
4Program in Medical and Population Genetics, Broad Institute, Cambridge, MA
5Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA
Hunter R. Underhill
6Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT
7Department of Radiology, University of Utah, Salt Lake City, UT
Beryl B. Cummings
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
4Program in Medical and Population Genetics, Broad Institute, Cambridge, MA
8Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA
Ben Weisburd
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
4Program in Medical and Population Genetics, Broad Institute, Cambridge, MA
Eric V. Minikel
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
4Program in Medical and Population Genetics, Broad Institute, Cambridge, MA
8Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA
Daniel P. Birnbaum
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
4Program in Medical and Population Genetics, Broad Institute, Cambridge, MA
Tatiana Tvrdik
2ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT
Daniel G. MacArthur
3Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA
4Program in Medical and Population Genetics, Broad Institute, Cambridge, MA
Rong Mao
1Department of Pathology, University of Utah, Salt Lake City, UT
2ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT
Article usage
Posted December 07, 2016.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
Colleen M. Carlston, Anne H. O’Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Exome Aggregation Consortium, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao
bioRxiv 090720; doi: https://doi.org/10.1101/090720
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
Colleen M. Carlston, Anne H. O’Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Exome Aggregation Consortium, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao
bioRxiv 090720; doi: https://doi.org/10.1101/090720
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