There has not yet been a systematic analysis of hESC whole genomes at a single nucleotide resolution. We therefore performed whole genome sequencing (WGS) of 143 hESC lines and annotated their single nucleotide and structural genetic variants. We found that while a substantial fraction of hESC lines contained large deleterious structural variants, finer scale structural and single nucleotide variants (SNVs) that are ascertainable only through WGS analyses were present in hESCs genomes and human blood-derived genomes at similar frequencies. However, WGS did identify SNVs associated with cancer or other diseases that will likely alter cellular phenotypes and may compromise the safety of hESCderived cellular products transplanted into humans. As a resource to enable reproducible hESC research and safer translation, we provide a user-friendly WGS data portal and a data-driven scheme for cell line maintenance and selection.

中文翻译：

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人类胚胎干细胞全基因组分析的生物学见解

尚未以单核苷酸分辨率对hESC整个基因组进行系统分析。因此，我们对143个hESC系进行了全基因组测序（WGS），并注释了它们的单核苷酸和结构遗传变异。我们发现，尽管大部分hESC品系包含有害的大结构变异体，但只有通过WGS分析才能确定的更小规模的结构和单核苷酸变异体（SNV）以相似的频率出现在hESCs基因组和人类血液来源的基因组中。但是，WGS确实确定了与癌症或其他疾病相关的SNV，这些SNV可能会改变细胞表型，并可能损害移植自人类的hESC衍生细胞产品的安全性。作为可重现hESC研究和更安全翻译的资源，