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Updated: Jan 16, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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一个完整的双倍体人类基因组对个性化基因组学的基准

Nancy F Hansen1, Nathan Dwarshuis2, Hyun Joo Ji3,4

  • 1Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

bioRxiv : the preprint server for biology
|September 26, 2025
PubMed
概括

一个新的端粒对端粒基因组基因组基准为完整的HG002基因组提供了近乎完美的准确性,改善了变异调用和基因组组装. 这个基准涵盖了以前未被绘制的区域,推进了基因组医学和个性化基因组学.

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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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