Article
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
European journal of human genetics : EJHG - 1 Jan 2021
Kirk Edwin P, Ong Royston, Boggs Kirsten, Hardy Tristan, Righetti Sarah, Kamien Ben, Roscioli Tony, Amor David J, Bakshi Madhura, Chung Clara W T, Colley Alison, Jamieson Robyn V, Liebelt Jan, Ma Alan, Pachter Nicholas, Rajagopalan Sulekha, Ravine Anja, Wilson Meredith, Caruana Jade, Casella Rachael, Davis Mark, Edwards Samantha, Archibald Alison, McGaughran Julie, Newson Ainsley J, Laing Nigel G, Delatycki Martin B
Abstract excerpt
Reproductive genetic carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked genetic conditions. We developed a gene list for use in "Mackenzie's Mission", a research project in which 10,000 couples will undergo screening. Criteria for selecting genes were: the condition should be life-limiting or disabling, with childhood onset, such...
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