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Updated: Jun 29, 2025

Quantification of Orofacial Phenotypes in Xenopus
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Published on: November 6, 2014

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通过现场计算面部分析来增强VarFish的变体优先级

Meghna Ahuja Bhasin1, Alexej Knaus1, Pietro Incardona1,2

  • 1Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.

Genes
|March 28, 2024
PubMed
概括

通过结合面部和临床数据,优先考虑罕见疾病的基因组变异得到了改进. 这项研究将面部分析 (GestaltMatcher) 和表型分析 (CADA) 集成到VarFish中,提高了诊断准确度.

关键词:
异构体测序分析分析面部成像分析 面部成像分析下一代的表型化是下一代的表型化.罕见的疾病 罕见的疾病变种优先级排名 变种优先级排名

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