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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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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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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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Genome-wide Association Studies-GWAS01:11

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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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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
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Genetic Variation and Autism: A Field Synopsis and Systematic Meta-Analysis.

Jinhee Lee1, Min Ji Son2, Chei Yun Son3

  • 1Department of Psychiatry, Yonsei University Wonju College of Medicine, Wonju 26426, Korea.

Brain Sciences
|October 3, 2020
PubMed
Summary
This summary is machine-generated.

This study verified genetic risk factors for autism spectrum disorder (ASD) using Bayesian methods. Several genetic comparisons showed noteworthy associations with ASD risk, emphasizing the need for careful verification.

Keywords:
Bayesian false-discovery probability (BFDP)Genome-Wide Association Studies (GWAS)autism spectrum disorderfalse positive report probability (FPRP)meta-analysis

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Area of Science:

  • Genetics
  • Neuroscience
  • Biostatistics

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a significant genetic component.
  • Identifying reliable genetic risk factors for ASD is crucial for understanding its etiology and developing interventions.
  • Previous genetic association studies have yielded numerous findings, but replication and validation remain challenges.

Purpose of the Study:

  • To rigorously evaluate reported genetic risk factors for ASD using robust statistical methods.
  • To differentiate genuine genetic associations from false positives in ASD research.
  • To identify specific genetic comparisons with high probability of being true associations with ASD risk.

Main Methods:

  • Systematic literature search of PubMed and the Genome-Wide Association Studies (GWAS) catalog up to August 2019.
  • Re-analysis of 27 meta-analyses and 4 manually added GWAS catalog articles.
  • Application of False Positive Report Probability (FPRP) and Bayesian False-Discovery Probability (BFDP) for statistical validation.

Main Results:

  • Out of 31 comparisons from observational study meta-analyses, 5 showed noteworthy estimations.
  • 40 out of 203 comparisons from GWAS meta-analyses met Bayesian criteria for noteworthy findings.
  • 18 out of 20 comparisons from the GWAS catalog demonstrated significant Bayesian estimations.

Conclusions:

  • The study identified several noteworthy genetic comparisons associated with an increased risk of ASD.
  • Bayesian statistical approaches (FPRP and BFDP) are effective in verifying genetic findings for ASD.
  • While multiple genetic factors are linked to ASD, careful verification of genuine associations is essential.