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Updated: Jun 25, 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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胚胎检测中的二次发现:咨询和监视考虑

Catherine M Skefos1, Pamela L Brock2, Erica Blouch3

  • 1The University of Texas MD Anderson Cancer Center, Clinical Cancer Genetics Program, Houston, Texas, USA.

Endocrine oncology (Bristol, England)
|May 21, 2024
PubMed
概括

遇到二次苏辛酸脱酶复杂亚单元A (SDHA) 致病变体 (PVs) 需要谨慎的临床管理. 本评论讨论了基因测试中的这些偶然发现的咨询,监测和决策.

关键词:
SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx遗传咨询 遗传咨询 遗传咨询遗传性偏角质瘤是一种遗传性偏角质瘤.偶然发现是偶然的发现.帕拉格里奥马马是什么意思二次性发现二次性发现

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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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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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