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Updated: Sep 18, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
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敏捷MultiIdeogram:使用Illumina短读测序数据快速识别和可视化自卵性区域

Christopher M Watson1,2, Carolina Lascelles2, Morag Raynor2

  • 1North East and Yorkshire Genomic Laboratory Hub, St James's University Hospital, Leeds LS9 7TF, UK.

Biology
|June 26, 2025
PubMed
概括

在遗传数据中识别自囊性区域对于罕见的自体逆向性疾病至关重要. AgileMultiIdeogram使用外体数据绘制这些区域的地图,有助于诊断遗传疾病.

关键词:
自闭症的映射自闭症的映射这是下一代测序.罕见的衰退性疾病罕见的衰退性疾病

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