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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.1K
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...
14.1K
Human Genetics01:28

Human Genetics

716
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
716
Multiple Allele Traits01:49

Multiple Allele Traits

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The Concept of Multiple Allelism
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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.8K
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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Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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関連する実験動画

Updated: Sep 9, 2025

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

Published on: July 27, 2021

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多様なツールのコンセンサスのゲノタイプを用いて,タンデムリピートと複雑な人間の特徴との関連を特定するための実践的ガイド

Ibra Lujumba1, Yagoub Adam2, Helyaneh Ziaei Jam3

  • 1The African Center of Excellence in Bioinformatics and Data Intensive Sciences, Makerere University, Kampala, Uganda.

Nature protocols
|September 1, 2025
PubMed
まとめ

このプロトコルは,全ゲノムシーケンシングデータから正確なタンデムリピート (TR) ゲノタイプ化のための方法を提供します. 人口ゲノム学とTR特性の関連研究のためのTR変異の堅固な分析を可能にします.

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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

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

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関連する実験動画

Last Updated: Sep 9, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

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

Published on: July 27, 2021

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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

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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科学分野:

  • ゲノミクス
  • 人間 の 遺伝子
  • バイオ情報学

背景:

  • タンデムリピート (TR) は,ヒトのフェノタイプに関連した変数ゲノム領域である.
  • 精密なTR遺伝子型決定は,集団の多様性とTR特性の関連性を理解するために不可欠です.

研究 の 目的:

  • 人口ゲノミクスのための高品質のコンセンサスTRゲノタイプを生成するためのプロトコルを提示する.
  • TR ゲノタイプ化,品質管理,ゲノタイプ統合の方法を詳細に説明する.

主な方法:

  • HipSTR,GangSTR,adVNTR,ExpansionHunterを用いたTRゲノタイプ化について
  • TRToolsによる品質管理とEnsembleTRによるゲノタイプ統合
  • TRの変異パターン,集団特有の拡大,およびTR特性の関連性の分析.

主要な成果:

  • 1000ゲノム・プロジェクトのデータで有用性が示された.
  • アフリカの集団で以前に特定されたTR長と遺伝子発現の関連性を再現した.
  • 複雑な特性の識別におけるTR分析の枠組みを提供した.

結論:

  • このプロトコルは,集団ゲノミクスのための信頼性の高いTRゲノタイプ化を容易にする.
  • TR分析は複雑な特性を明らかにし,ゲノム多様性を理解するために重要です.