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Updated: Jan 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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一个框架,用于识别和优先级SNP在基因的下丘脑 - 垂体 - 淋巴腺轴在古泽拉特牛使用安普利康基于NGS的基因

Olivia Marcuzzi1,2, Francisco Calcaterra1,2, Leónidas H Olivera1,2

  • 1Instituto de Genética Veterinaria (IGEVET, CONICET), Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, 60 Y 118 S/N, La Plata, 1900, Argentina.

BMC genomic data
|October 29, 2025
PubMed
概括

研究人员开发了一种新方法,结合了amplicon下一代测序 (NGS) 和生物信息学,以识别影响牛繁殖的遗传变异. 这种方法确切地指出了三个关键的基因多态性,可能会影响诸如古泽拉特牛的青春期发作等特征.

关键词:
牛类牛类牛类牛类牛类牛通过测序进行基因型鉴定.多态性多态性多态性蛋白质建模模型生殖性特征 生殖性特征

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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization08:27

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Published on: July 27, 2021

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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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