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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.
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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.
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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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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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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Una guía práctica para identificar asociaciones entre repeticiones en tándem y rasgos humanos complejos utilizando

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
Resumen

Este protocolo proporciona un método para una genotipización precisa de repetición en tándem (TR) a partir de datos de secuenciación de genoma completo. Permite un análisis robusto de la variación de TR para la genómica de poblaciones y los estudios de asociación de TR con rasgos.

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Área de la Ciencia:

  • La genómica
  • La genética humana
  • La bioinformática

Sus antecedentes:

  • Las repeticiones en tándem (TR) son regiones genómicas variables asociadas con fenotipos humanos.
  • La genotipización TR precisa es crucial para comprender la variación de la población y las asociaciones de rasgos TR.

Objetivo del estudio:

  • Presentar un protocolo para generar genotipos TR de consenso de alta calidad para la genómica de poblaciones.
  • Detallar los métodos para el genotipado de TR, el control de calidad y la integración del genotipo.

Principales métodos:

  • La genotipización de TR usando HipSTR, GangSTR, adVNTR y ExpansionHunter.
  • Control de calidad con TRTools y integración de genotipos con EnsembleTR.
  • Análisis de los patrones de variación de TR, las expansiones específicas de la población y las asociaciones de TR con los rasgos.

Principales resultados:

  • Utilidad demostrada con los datos del Proyecto 1000 Genomas.
  • Replicó una asociación de longitud de TR y expresión génica previamente identificada en poblaciones africanas.
  • Proporcionó un marco para el análisis TR en la identificación de rasgos complejos.

Conclusiones:

  • El protocolo facilita el genotipado TR confiable para la genómica de poblaciones.
  • El análisis TR es relevante para descubrir rasgos complejos y comprender la variación genómica.