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Updated: Jun 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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对可能良性内基和同名变异的综合生物信息和拼接分析揭示了致病性证据

Owen R Hirschi1,2, Stephanie A Felker3, Surya P Rednam1,2

  • 1Baylor College of Medicine, Houston, TX.

Genetics in medicine open
|December 13, 2024
PubMed
概括

拼接AI提高了罕见拼接变体的检测,重新分类良性变体,增加了罕见疾病的诊断产量. 这种工具通过识别有影响力的内部和同义变体来增强变体分析.

关键词:
在内部的电子.这是一个RNARNARNARNARNA.拼接 拼接 拼接 拼接同义词 同义词 同义词 同义词变体分类的变体分类

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