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Updated: Jul 9, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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全基因组检测体质马赛克主义在短串联重复的重复

Aarushi Sehgal1, Helyaneh Ziaei-Jam1, Andrew Shen1

  • 1Department of Computer Science and Engineering, University of California San Diego, La Jolla, USA.

bioRxiv : the preprint server for biology
|December 4, 2023
PubMed
概括

一种名为prancSTR的新方法,可以从测序数据中识别马赛克短并列重复 (mSTR),而不需要对照样本. 这有助于更好地了解与STR不稳定性相关的疾病.

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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.
GWAS does not require the identification of the target gene involved in...
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