Journal article

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Mark J Cowley, Yu-Chi Liu, Karen L Oliver, Gemma Carvill, Candace T Myers, Velimir Gayevskiy, Martin Delatycki, Danique RM Vlaskamp, Ying Zhu, Heather Mefford, Michael F Buckley, Melanie Bahlo, Ingrid E Scheffer, Marcel E Dinger, Tony Roscioli

Human Mutation | WILEY | Published : 2019


Awarded by Cancer Institute NSW

Awarded by NHMRC

Funding Acknowledgements

W.G.S. was funded by the Kinghorn Foundation. M.J.C. was supported by Cancer Institute NSW (3/ECF/1-46) and an NSW Health Early-Mid Career Fellowship. M.B. was supported by NHMRC Program grant (ID: 1054618) and NHMRC Senior Research Fellowship (ID: 1102971). I.E.S. is supported by NHMRC Program grant (1091593, 2016-2020) and Senior Practitioner Fellowship (1104831, 2016-2020). T.R. was supported through a project grant from the NHMRC (ID: AU/1/BA51117)