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Updated: Jun 29, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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通过DNA-RNA配对测试解决家族腺瘤多重症患者缺失遗传性的问题

Colin C Young1, Carolyn Horton1, Jessica Grzybowski1

  • 1Ambry Genetics, Aliso Viejo, CA.

JCO precision oncology
|April 2, 2024
PubMed
概括

配对DNA和RNA测序改善了APC基因中遗传变异的检测,有助于诊断家族腺瘤多重症 (FAP) 和减弱FAP (AFAP). 这种方法有助于识别FAP家庭缺失的遗传性,指导治疗和计划生育.

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Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection07:35

Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection

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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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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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