遗传咨询师和先天性心脏病:临床角色,遗传检测实践,以及遗传检测的感知实用性

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Updated: Jul 12, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Sara M Fitzgerald-Butt1, Allison F Schartman1,2, Kelly Schmit1

  • 1Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Journal of genetic counseling
|October 24, 2023
PubMed
概括

遗传咨询和对先天性心脏缺陷 (CHD) 的检测在遗传咨询师之间有所不同. 虽然染色体微数组是首选的,但产前顾问更喜欢用于隔离性心血管疾病的旧方法,而不是喜欢使用较新的测序技术的产后顾问.

关键词:
遗传性心脏病是一种先天性心脏病.遗传咨询 遗传咨询 遗传咨询基因检测 基因检测是指基因检测.

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