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Updated: Jun 14, 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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多基因风险评分 (PRS) 与NGS小组测试相结合,提高了遗传性乳腺癌风险估计的准确性

Nikolaos Tsoulos1, Eirini Papadopoulou1, Konstantinos Agiannitopoulos1

  • 1Genekor Medical S.A., 15344 Athens, Greece.

Diagnostics (Basel, Switzerland)
|August 29, 2024
PubMed
概括

多基因风险评分 (PRS) 提高了乳腺癌风险评估,特别是对于有家族病史但没有确定的遗传变异的女性. 将PRS与遗传检测和家族病史相结合,可以提高风险分层,从而更好地预防.

关键词:
乳腺癌 乳腺癌 乳腺癌下一代测序 (NGS) 是指下一代的测序.多基因风险评分 (PRS)

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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.
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