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Gene Discovery Using Twins
Twin Research and Human Genetics ( IF 1.0 ) Pub Date : 2020-06-24 , DOI: 10.1017/thg.2020.38
David Duffy 1 , Rick Sturm 2 , Gu Zhu 1 , Stuart MacGregor 3
Affiliation  

One of Nick’s key early achievements at QIMR was to establish a twin study on melanoma risk factors. The Brisbane Twin Nevus Study (BTNS) had an initial focus on nevus (mole) count in adolescents but, reflecting Nick’s broad interests, expanded in scope enormously over the decades. In the skin cancer arena, BTNS was essential to genetic discoveries in melanoma, eye color and pigmentation. Later studies amassed data on thousands of phenotypes, ranging from molecular phenotypes such as gene expression to studies where gene mapping findings in adolescents turned out to have translational potential in late-onset diseases. Nick’s twin data have formed the basis for an enormous range of discoveries, with Nick and his colleagues continuing to capitalize on these data.

中文翻译:

使用双胞胎进行基因发现

Nick 在 QIMR 的早期主要成就之一是建立了一项关于黑色素瘤风险因素的双胞胎研究。布里斯班双痣研究 (BTNS) 最初关注的是青少年的痣(痣)数量,但反映了尼克的广泛兴趣,在过去的几十年里范围大大扩大。在皮肤癌领域,BTNS 对于黑色素瘤、眼睛颜色和色素沉着的基因发现至关重要。后来的研究积累了数千种表型的数据,从基因表达等分子表型到青少年基因图谱发现在迟发性疾病中具有转化潜力的研究。尼克的双胞胎数据为大量发现奠定了基础,尼克和他的同事们继续利用这些数据。
更新日期:2020-06-24
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