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Updated: Sep 17, 2025

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

Published on: June 21, 2018

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基于一小组SNP的目标NGS数据的基因定型正确匹配患者样本

Deyan Yordanov Yosifov1,2, Christof Schneider3,4, Stephan Stilgenbauer3,4

  • 1Division of CLL, Department of Internal Medicine III, Ulm University Hospital, Ulm, Germany. deyan.yosifov@uniklinik-ulm.de.

BMC research notes
|July 3, 2025
PubMed
概括

错误标记的实验室样本可以使用定向下一代测序 (tNGS) 来检测,其中包含28个单核酸多态 (SNP) 的自定义列表. 这项研究开发了一种自动化工作流程,以识别样本交换和错误标签,提高数据准确性和患者安全.

关键词:
基因型定制是指基因型定制.黄金工具 黄金工具 黄金工具在这个过程中,R是R.样本错误识别的错误识别样本错误标签的错误标签样本交换交易所 样本交换单核酸多态 (单核酸多态) (简称单核酸多态,简称单核酸多态)有针对性的NGS.

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

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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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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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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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