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Related Concept Videos

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.
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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Karyotyping01:17

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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Related Experiment Video

Updated: Jan 10, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).

Ruihao Xu1, Haoming Ren2, Zhengwei Yuan3

  • 1Second Clinical College, Shengjing Hospital, China Medical University, Shenyang, Liaoning 110004, P.R. China.

International Journal of Molecular Medicine
|November 21, 2025
PubMed
Summary

Advanced genomic technologies improve the diagnosis of structural birth defects (SBDs), including congenital heart defects (CHDs), orofacial clefts (OFCs), and neural tube defects (NTDs). These methods enhance genetic counseling and pave the way for targeted treatments.

Keywords:
copy number variationgenome‑wide association studygenomicssingle nucleotide variants/insertion and deletionsstructural birth defects

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Area of Science:

  • Genomics and Medical Genetics
  • Developmental Biology
  • Congenital Malformations

Background:

  • Structural birth defects (SBDs), particularly congenital heart defects (CHDs), orofacial clefts (OFCs), and neural tube defects (NTDs), cause significant neonatal mortality and morbidity.
  • Traditional genetic screening methods are insufficient for identifying the complex genetic causes of SBDs.

Purpose of the Study:

  • To review state-of-the-art genomic methodologies and computational approaches for detecting genomic aberrations in CHDs, OFCs, and NTDs.
  • To integrate insights from genome-wide association studies (GWAS) to understand the genetic architecture of SBDs.

Main Methods:

  • Review of advanced genomic technologies like chromosomal microarray analysis and next-generation sequencing.
  • Analysis of integrated genomic methods including copy number variation and single nucleotide variation analysis.
  • Integration of genome-wide association studies (GWAS) findings.

Main Results:

  • Advanced genomic technologies significantly enhance the identification of pathogenic genetic factors in SBDs.
  • Improved diagnostic accuracy and disease classification enable better clinical decision-making and prognosis assessment.
  • Genomic insights facilitate targeted interventions and therapeutic strategies for SBDs.

Conclusions:

  • Genomic approaches are transforming prenatal diagnosis and genetic counseling for SBDs.
  • Understanding the genetic architecture through GWAS supports precise predictive modeling.
  • This review highlights the potential for targeted therapeutic innovation in managing SBDs.