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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Genetic Variation01:25

Genetic Variation

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.
Genes exist in different versions called alleles, which...

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European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction-associated steatotic liver disease.

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Updated: Jun 30, 2026

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

Genetic and Genomic Insights Across the SLD Spectrum.

Jake P Mann1,2, Karn Wijarnpreecha3,4, Vitchapong Prasitsumrit5

  • 1Department of Immunology & Immunotherapy, School of Infection, Inflammation and Immunology, College of Medicine and Health, University of Birmingham, UK.

Clinical and Molecular Hepatology
|June 29, 2026
PubMed
Summary

Genetic variations significantly impact steatotic liver disease (SLD) progression, including metabolic dysfunction-associated steatotic liver disease (MASLD) and alcohol-related liver disease (ALD). Understanding these genetics may soon aid clinical risk stratification and personalized therapies.

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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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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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Last Updated: Jun 30, 2026

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
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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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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genetics and Genomics
  • Hepatology
  • Molecular Biology

Background:

  • Chronic liver disease, particularly steatotic liver disease (SLD), is a growing global health concern.
  • SLD encompasses metabolic dysfunction-associated steatotic liver disease (MASLD), alcohol-related liver disease (ALD), and combined forms (MetALD).
  • Genetic factors play a substantial role in the heritability of hepatic steatosis, fibrosis, and associated risks like hepatocellular carcinoma (HCC) and decompensation.

Purpose of the Study:

  • To review the current understanding of genetic and genomic influences on SLD.
  • To highlight the potential clinical utility of genetic insights in managing SLD.
  • To explore future directions in SLD genetics research.

Main Methods:

  • Literature review of genetic and genomic studies in SLD.
  • Analysis of gene variants associated with MASLD, ALD, and MetALD.
  • Discussion of clinical implications and future research avenues.

Main Results:

  • Specific gene variants (e.g., PNPLA3, TM6SF2, HSD17B13) are linked to cirrhosis and HCC in both MASLD and ALD.
  • Other variants (e.g., GCKR, TRIB1, GPAM) are primarily associated with hepatic steatosis risk in MASLD.
  • Genetic risk factors for MetALD are presumed similar to MASLD and ALD due to shared genetic underpinnings.

Conclusions:

  • Genetic studies offer valuable insights into SLD pathogenesis.
  • Genetics may soon play a role in clinical risk stratification for SLD.
  • Future research should focus on genetically-defined subtypes, gene-environment interactions, and therapeutic implications.