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Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Jul-02 , DOI: 10.1038/s41436-018-0082-9 Edwin P Kirk 1, 2, 3 , Kristine Barlow-Stewart 4 , Arthavan Selvanathan 5 , Sarah Josephi-Taylor 1, 3 , Lisa Worgan 5 , Sulekha Rajagopalan 5 , Mark J Cowley 6 , Velimir Gayevskiy 6 , Alan Bittles 7 , Leslie Burnett 8 , George Elakis 2 , William Lo 2 , Michael Buckley 2 , Alison Colley 5 , Tony Roscioli 1, 2, 9
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Jul-02 , DOI: 10.1038/s41436-018-0082-9 Edwin P Kirk 1, 2, 3 , Kristine Barlow-Stewart 4 , Arthavan Selvanathan 5 , Sarah Josephi-Taylor 1, 3 , Lisa Worgan 5 , Sulekha Rajagopalan 5 , Mark J Cowley 6 , Velimir Gayevskiy 6 , Alan Bittles 7 , Leslie Burnett 8 , George Elakis 2 , William Lo 2 , Michael Buckley 2 , Alison Colley 5 , Tony Roscioli 1, 2, 9
Affiliation
To provide proof of concept by broadening preconception screening beyond targeted testing to inform reproductive risk in consanguineous couples.
中文翻译:
小组之外:使用 TruSight One“临床外显子组”对近亲夫妇进行孕前筛查。
通过将孕前筛查范围扩大到有针对性的测试之外,以提供概念证明,以告知近亲夫妇的生殖风险。
更新日期:2018-07-03
中文翻译:
小组之外:使用 TruSight One“临床外显子组”对近亲夫妇进行孕前筛查。
通过将孕前筛查范围扩大到有针对性的测试之外,以提供概念证明,以告知近亲夫妇的生殖风险。