Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening

Ramdaney Aarti; Dunn Diane M.; Weiss Robert B.; Rose Nancy C.

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Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening

机译：谨防实验室报告：生殖载体筛查中变异分类中的差异

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来源
《Genetics in medicine 》 |2018年第3期| 共2页
作者
Ramdaney Aarti; Dunn Diane M.; Weiss Robert B.; Rose Nancy C.;
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作者单位

Univ Texas Houston Med Sch Houston Dept Obstet Gynecol &

Reprod Sci Houston TX 77004 USA;

Univ Utah Dept Human Genet Salt Lake City UT USA;

Univ Utah Dept Human Genet Salt Lake City UT USA;

Univ Utah Dept Obstet &

Gynecol Salt Lake City UT USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学 ;
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1. Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening [J] . Ramdaney Aarti, Dunn Diane M., Weiss Robert B., Genetics in medicine . 2018 ,第3期

机译：谨防实验室报告：生殖载体筛查中变异分类中的差异
2. Reproductive carrier screening and challenges in variant interpretation [J] . Tolbert-Freel Trisha, Phornphutkul Chanika Molecular genetics and metabolism . 2018 ,第3期

机译：变异解释中的生殖载体筛选和挑战
3. Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients [J] . Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Molecular Genetics & Genomic Medicine . 2020 ,第2期

机译：从自我报告的阿什肯纳齐，Sephardi和Mizrahi犹太患者中从扩展的生殖载体筛查中了解的经验教训
4. Improving analysis and reporting for Virginia's Division of Consolidated Laboratory Services newborn screening program [C] . Chris Patrick, Hampton Leonard, Wendy Novicoff, Systems and Information Engineering Design Symposium . 2017

机译：改善弗吉尼亚州综合实验室服务部门新生儿筛查计划的分析和报告
5. Attitudes and Perspectives of Healthcare Professionals Towards the Receipt of Updated Variant Classification Information Following Carrier Screening [D] . Elfman, Hannah. 2018

机译：医疗保健专业人员对收到更新的变体分类信息后的验证和展望的态度和观点
6. Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi Sephardi and Mizrahi Jewish patients [O] . Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, 2020

机译：自我报告的AshkenaziSephardi和Mizrahi犹太患者从扩大生殖载体筛选中获得的经验教训
7. Inter‐lab concordance of variant classifications establishes clinical validity of expanded carrier screening [O] . Kristjan E. Kaseniit, Elizabeth Collins, Christine Lo, 2019

机译：变体分类的实验室协调建立了扩展载体筛查的临床有效性

Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening

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