Choice of transcripts and software has a large effect on variant annotation
Davis J McCarthy, Peter Humburg, Alexander Kanapin, Manuel A Rivas, Kyle Gaulton, Jean-Baptiste Cazier, Peter Donnelly
Genome Medicine | BIOMED CENTRAL LTD | Published : 2014
Awarded by Wellcome Trust for the Wellcome Trust Centre for Human Genetics
Awarded by Wellcome Trust
The authors wish to thank the patients and their families for participating in this study. We are also grateful to Alistair Pagnamenta for helpful discussions and suggestions to improve the analysis and manuscript, and Gil McVean and Jenny Taylor for their comments on an earlier version of the manuscript. This work was supported by a Wellcome Trust Core Grant for the Wellcome Trust Centre for Human Genetics (090532/Z/09/Z). PD is supported by a Wellcome Trust Senior Investigator Award (095552/Z/11/Z). DJM is supported by a General Sir John Monash Scholarship from the General Sir John Monash Foundation, Australia. MAR is funded by a Clarendon Scholarship, NDM Studentship and Green Templeton College Award from the University of Oxford.