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Updated: Sep 8, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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社区驱动的复制数变异发现规模:罕见疾病基因组哈卡通的结果

Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson

    medRxiv : the preprint server for health sciences
    |August 20, 2025
    PubMed
    概括

    开发了可扩展拷贝数变异 (CNV) 分析工作流程,以加快罕见疾病诊断. 这些方法有效地从短读基因组测序数据中检测和解释CNV,有助于识别疾病的遗传原因.

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    Detection of Copy Number Alterations Using Single Cell Sequencing09:45

    Detection of Copy Number Alterations Using Single Cell Sequencing

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    Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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