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Updated: Jul 9, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

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创建,验证和整合高通量功能测试数据的可扩展方法,以改善临床变异分类

Samskruthi Reddy Padigepati1, David A Stafford1, Christopher A Tan1

  • 1Invitae Corporation, San Francisco, CA, 94103, USA.

Human genetics
|July 31, 2024
PubMed
概括

变异效应多重试验 (MAVEs) 为分类遗传变异提供了关键的功能数据. 该框架将MAVE数据整合到临床遗传测试中,改善变异解释和患者护理.

关键词:
马维 (MAVE) 是一个很棒的平台.机器学习 机器学习变体分类的变体分类

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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