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Updated: Jan 18, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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全球评估与先天性心脏病相关的非编码变体

José Rodríguez-Martínez, Edwin Peña-Martínez, Shreya Sharma

    Research square
    |January 16, 2026
    PubMed
    概括

    一种新的方法,SNP Bind-n-Seq,有效地测试了成千上万的先天性心脏病 (CHD) 变体对基因调节的影响. 它确定了影响心脏细胞转录因子结合和基因表达的变异.

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