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

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

DOI: 10.1002/humu.23699

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University of Melbourne Researchers

Melanie Bahlo Author Mathematics and Statistics

Ingrid Scheffer Author Medicine - Austin Health

Yu-Chi Liu Author Medical Biology (W.E.H.I.)

Karen Oliver Broderick Author Medicine - Austin Health

Martin Delatycki Author Melbourne School of Population and Global Health

Related Projects (2)

HUMAN EPILEPSY: UNDERSTANDING BIOLOGY TO IMPROVE OUTCOMES

Our team of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the gen..

IMPLEMENTING PRECISION MEDICINE IN EPILEPSY

I aim to understand the genetics of the epilepsies. Through detailed analysis of different types of epilepsy, and associated features such a..

Grants

Awarded by Cancer Institute NSW

Awarded by NHMRC

Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

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)