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Related Concept Videos

Human Genetics01:28

Human Genetics

547
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...
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Genetic Lingo01:11

Genetic Lingo

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Overview
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Epistasis Analysis01:09

Epistasis Analysis

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Jun 13, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen1,2, Corrine Smolen1,2, Anastasia Tyryshkina1

  • 1Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

Medrxiv : the Preprint Server for Health Sciences
|September 10, 2024
PubMed
Summary
This summary is machine-generated.

Modifier variants significantly impact disease presentation in individuals with primary genetic variants. Understanding these genetic interactions is key to personalized medicine for complex disorders.

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Area of Science:

  • Genetics
  • Genomic Architecture
  • Clinical Genetics

Background:

  • Disease presentation varies even with the same primary genetic variant, suggesting modifying factors.
  • Secondary variants are hypothesized to influence the clinical outcomes of primary genetic conditions.

Purpose of the Study:

  • To investigate the impact of secondary variants on clinical outcomes in individuals with primary disease-associated variants.
  • To explore how different classes of variants interact to shape phenotypic expression.

Main Methods:

  • Analysis of 2,252 individuals with primary variants, including 773 with the 16p12.1 deletion.
  • Examination of variant classes (short tandem repeats, single nucleotide variants) and their association with specific features.
  • Comparative analysis across different cohorts and primary variant contexts (e.g., 16p11.2 deletion, CHD8 variants).

Main Results:

  • Specific variant classes (STRs, SNVs) were linked to distinct developmental features in the 16p12.1 deletion cohort.
  • Secondary variants showed opposing effects on clinical features depending on the ascertainment cohort.
  • Phenotypic associations were influenced by the primary variant context and synergistic interactions between primary and secondary variants.

Conclusions:

  • Secondary variants play a crucial role in the variable expressivity of genetic disorders.
  • Dissecting the genomic architecture of complex diseases requires considering interactions between multiple variants.
  • This study offers a framework for understanding genetic complexity and advancing personalized treatment strategies.