Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.3K
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...
13.3K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.9K
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,...
14.9K
Tissue Transplantation01:24

Tissue Transplantation

350
Tissue transplantation is a significant medical procedure involving the transfer of cells, tissues, or organs from a donor to a recipient, with the primary aim of restoring lost functions. This procedure is crucial in treating a broad spectrum of diseases, including kidney diseases, liver failure, heart disease, and certain types of cancers.
The Biology of Tissue Transplantation
The biology of tissue transplantation hinges on the Major Histocompatibility Complex (MHC) molecules. These molecules...
350

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Re: When Day-1 IL-6 Predicts Septic DIC-Capturing Imminent Immunothrombosis Rather Than General Risk.

Shock (Augusta, Ga.)·2026
Same author

Serum IL-6 levels in sepsis predict the development of sepsis-induced disseminated intravascular coagulation.

Shock (Augusta, Ga.)·2026
Same author

Purine salvage pathway protects CD8<sup>+</sup> T cells from metabolic stress.

Nature immunology·2026
Same author

Nrf2 maintains reactive oxygen species at an optimal level during endoplasmic reticulum stress in HT22 cells.

European journal of cell biology·2026
Same author

Fabrication of near-infrared-light-responsive photothermal tea leaf-derived particles with thermotolerance inhibitory and anticancer activities.

Journal of materials chemistry. B·2026
Same author

Impact of obesity on perioperative outcomes in robot-assisted surgery for endometrial cancer: A single-center study of 119 cases.

European journal of obstetrics & gynecology and reproductive biology: X·2026
Same journal

Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy.

Journal of human genetics·2026
Same journal

The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.

Journal of human genetics·2026
Same journal

Functional effect predictions for ion channel missense variants using a protein language model.

Journal of human genetics·2026
Same journal

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient.

Journal of human genetics·2026
Same journal

Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.

Journal of human genetics·2026
Same journal

Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study.

Journal of human genetics·2026
查看所有相关文章

相关实验视频

Updated: Jun 18, 2025

Personalized Peptide Arrays for Detection of HLA Alloantibodies in Organ Transplantation
08:07

Personalized Peptide Arrays for Detection of HLA Alloantibodies in Organ Transplantation

Published on: September 6, 2017

10.1K

通过变压器从顺序的SNP数据中有效地计算HLA.

Kaho Tanaka1,2, Kosuke Kato2, Naoki Nonaka2

  • 1Faculty of Engineering, Kyoto University, Kyoto, Japan.

Journal of human genetics
|August 2, 2024
PubMed
概括
此摘要是机器生成的。

一个新的基于变压器的模型,HLARIMNT,提高了人类白细胞抗原 (HLA) 归算的准确性,特别是对于罕见的等位基因. 该方法为基因数据分析的现有深度学习模型提供了更有效的替代方案.

更多相关视频

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

18.9K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.7K

相关实验视频

Last Updated: Jun 18, 2025

Personalized Peptide Arrays for Detection of HLA Alloantibodies in Organ Transplantation
08:07

Personalized Peptide Arrays for Detection of HLA Alloantibodies in Organ Transplantation

Published on: September 6, 2017

10.1K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

18.9K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.7K

科学领域:

  • 遗传学和基因组学 遗传学和基因组学
  • 生物信息学是一种生物信息学.
  • 免疫遗传学 免疫遗传学

背景情况:

  • 人类白细胞抗原 (HLA) 基因类型对疾病关联研究至关重要,但成本高且耗时.
  • 使用单核酸多态 (SNP) 数据的现有归算方法,包括像DEEP*HLA这样的深度学习模型,与罕见的等位基因和大数据集作斗争.

研究的目的:

  • 开发一种基于变压器的新型模型,HLARIMNT,用于准确和高效的HLA等位基因归算.
  • 评估HLARIMNT的性能与现有方法相比,特别是对于罕见的等位基因和不同的训练数据大小.

主要方法:

  • 开发了一种基于变压器的模型HLARIMNT,利用SNP数据的顺序性来计算HLA.
  • 使用泛亚和1型糖尿病遗传学联盟 (T1DGC) 参考面板评估HLARIMNT.
  • 在不同训练数据卷中,比较了HLARIMNT的归算精度与DEEP*HLA模型.

主要成果:

  • 与DEEP*HLA相比,HLARIMNT表现出更高的归因准确性,特别是对于罕见的HLA等位基因.
  • 模型的性能在不同的参考面板大小和训练数据量中保持稳健.
  • 变压器架构有效地利用顺序SNP数据进行增强的归算.

结论:

  • HLARIMNT在HLA等位基因归算中提供了显著的进步,提供了更高的准确性和效率.
  • 基于变压器的模型显示,不仅可以从顺序的SNP数据中赋予HLA类型,而且可以从顺序SNP数据中赋予其他基因类型.
  • 这种方法可以减少与大规模研究中的遗传类型相关的成本和时间.