https://www.insideprecisionmedicine.com/population-genomics/all-of-us-first-data-release-comprises-nearly-100k-whole-genome-sequences/ 2. All of Us Research Program's First Genomic Data Release Helps Fuel Hundreds of Research Studies https://www.genomeweb.com/sequencing/all-us-research-programs-fi...
Genome sequencing 为了满足临床准确性、精确性和一致性的要求,跨越DNA样本提取和测序,All of Us基因组中心和生物银行协调了实验室协议,建立了标准的质量控制方法和指标,并使用先前已表征的临床样本和商业可用的参考标准进行了一系列验证实验。 简要地说,使用Illumina Kapa HyperPrep试剂盒构建了无PCR条形码的全基因组测...
Genome informaticsThe All of Us (AoU) initiative aims to sequence the genomes of over one million Americans from diverse ethnic backgrounds to improve personalized medical care. In a recent technical pilot, we compare the performance of traditional short-read sequencing with long-read sequencing in ...
全基因组测序(Whole Genome Sequencing,WGS):WGS是一种高通量测序技术,可以对病人的整个基因组进行测序。通过WGS,可以全面地检测病人的基因变异情况,包括染色体异常、基因突变等。这有助于医生了解病人的疾病风险、预后情况以及对不同药物的敏感性,从而制定个体化的治疗方案。 2. 靶向测序(Targeted Sequencing):靶向...
This cross-sectional study uses data from the All of Us Research Program to assess whether the prevalence of 12 common health conditions differs between
Genome sequencing To satisfy the requirements for clinical accuracy, precision and consistency across DNA sample extraction and sequencing, the All of Us Genome Centers and Biobank harmonized laboratory protocols, established standard QC methodologies and metrics, and conducted a series of validation experim...
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in nuclear or mit
Data collected in the All of Us Research Program consists of whole-genome sequences, health records, and surveys, with intention to not only compile GWAS data, but also to provide insight into health across diverse ancestries, and levels of access to healthcare. This ambitious endeavor currentl...
BA1:ESP数据库(Exome SequencingProject),千人数据库(1000 GenomesProject)及 ExAC数据库(Exome AggregationConsortium)中的等位基因频率大于5%的变异。 BS1: 等位基因频率大于疾病发病率。 BS2: 对于早期完全外显的疾病, 在健康成年人中发现该变异(隐性遗传病发现纯合、显性遗传病发现杂合, 或者X 连锁半合子)。
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