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Updated: Jun 21, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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基于人群的生殖系乳腺癌基因关联研究和元分析,以告知更广泛的主流测试

C F Rowlands1, S Allen1, J Balmaña2

  • 1Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

Annals of oncology : official journal of the European Society for Medical Oncology
|July 10, 2024
PubMed
概括

乳腺癌易感基因 (BCSGs) 的生殖基因测试正在扩展到普通人群中. 这项研究量化了37个BCSG中的病原性变异频率,用于种群类型乳腺癌,有助于定义适合更广泛测试的基因组.

关键词:
乳腺癌 乳腺癌 乳腺癌案例控制情况主流遗传测试是主流的这是一个元分析.多基因小组测试测试多基因小组测试

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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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