Publications

Reports

Submission to the FSC Consultation on FSC Draft Code of Practice 2.0 including Moratorium on Genetics Tests in Life Insurance

GPrepared by Belcher A, Boughtwood T, Newson A, North K on behalf of Australian Genomics. (2019).

A national clinical genomic consent process: Development of standardised consent materials for clinical genomic testing in Australia.

Prepared by Boughtwood T on behalf of the National Clinical Genomic Consent Working Group, Australian Genomics. (2018).

Australian Genomics Position Statement: Use of Genomic Information in Life Insurance and related policies.

Belcher A, Boughtwood T, Pearce M and Newson A, on behalf of Australian Genomics (2018).

Australian Genomics and Partners

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.

Jayasinghe, K., Stark, Z., Patel, C., Mallawaarachchi, A., McCarthy, H., Faull, R., et al. (2019). BMJ Open.

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Akesson, L.S., Eggers, S., Love, C.J., Chong, B., Krzesinski, E.I., Brown, N.J., et al. (2019). European Journal of Human Genetics.

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Stark, Z., Boughtwood, T., Phillips, P., Christodoulou, J., Hansen, D.P., Braithwaite, J., et al. (2019). American Journal of Human Genetics.

Genomics articles of interest

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola L.M, Jarvik G.P, Leo M.C, McLaughlin H.M, Akkari Y, Amaral M.D, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. American Journal of Human Genetics. 2016. 99 (1) : 247.

Accessory subunits are integral for assembly and function of human mitochondrial complex I

Stroud D.A, Surgenor E.E, Formosa L.E, Reljic B, Frazier A.E, Dibley M.G, et al. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Nature. 2016. 538 (7623) : 123—26.

Precision oncology for acute myeloid leukemia using a knowledge bank approach

Gerstung M, Papaemmanuil E, Martincorena I, Bullinger L, Gaidzik V.I, Paschka P, et al.. Precision oncology for acute myeloid leukemia using a knowledge bank approach. Nature Genetics. 2017. [ePub ahead of print]