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Transcript expression-aware annotation improves rare variant discovery and interpretation
View ORCID ProfileBeryl B. Cummings, View ORCID ProfileKonrad J. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk, Jonathan M. Mudge, Juha Karjalainen, F. Kyle Satterstrom, Anne O’Donnell-Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alföldi, The Genome Aggregation Database Production Team, The Genome Aggregation Database Consortium, Mark J. Daly, Daniel G. MacArthur
doi: https://doi.org/10.1101/554444
Beryl B. Cummings
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.
Konrad J. Karczewski
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jack A. Kosmicki
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
4Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA 02115, USA
Eleanor G. Seaby
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nicholas A. Watts
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Moriel Singer-Berk
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jonathan M. Mudge
6European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, CB101SD, UK
Juha Karjalainen
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
F. Kyle Satterstrom
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Anne O’Donnell-Luria
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
7Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA
Timothy Poterba
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Cotton Seed
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Matthew Solomonson
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jessica Alföldi
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark J. Daly
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
5Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Daniel G. MacArthur
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. USA.
2Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Posted February 19, 2019.
Transcript expression-aware annotation improves rare variant discovery and interpretation
Beryl B. Cummings, Konrad J. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk, Jonathan M. Mudge, Juha Karjalainen, F. Kyle Satterstrom, Anne O’Donnell-Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alföldi, The Genome Aggregation Database Production Team, The Genome Aggregation Database Consortium, Mark J. Daly, Daniel G. MacArthur
bioRxiv 554444; doi: https://doi.org/10.1101/554444
Transcript expression-aware annotation improves rare variant discovery and interpretation
Beryl B. Cummings, Konrad J. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk, Jonathan M. Mudge, Juha Karjalainen, F. Kyle Satterstrom, Anne O’Donnell-Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alföldi, The Genome Aggregation Database Production Team, The Genome Aggregation Database Consortium, Mark J. Daly, Daniel G. MacArthur
bioRxiv 554444; doi: https://doi.org/10.1101/554444
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