Prioritizing the detection of rare pathogenic variants in population screening

The authors thank J. Tiller for her input into this article. P.L. is supported by a National Heart Foundation Future Leader Fellowship (102604) and grants from the Australian Government Department of Health, Medical Research Future Fund, Genomics Health Futures Mission (APP2009024) and National Institutes of Health (1127060). R.M. is funded by the Yorkshire Cancer Research and Eve Appeal into Population testing and has been supported by an NHS Innovation Accelerator (NIA) Fellowship for population testing. R.C.G. is funded by NIH grants: TR003201, HG008685, HL143295, OD026553 and by the Franca Sozzani Fund for Preventive Genomics.

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