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Related Concept Videos

Improving Translational Accuracy02:07

Improving Translational Accuracy

Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
Improving Translational Accuracy02:07

Improving Translational Accuracy

Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
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...

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Related Experiment Video

Updated: May 24, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

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Improved power by collapsing rare and common variants based on a data-adaptive forward selection strategy.

Yilin Dai1, Ling Guo, Jianping Dong

  • 1Department of Mathematical Sciences, Michigan Technological University, 1400 Townsend Drive, Houghton, MI 49931, USA. rjiang@mtu.edu.

BMC Proceedings
|March 1, 2012
PubMed
Summary

This study introduces a new data-adaptive method to identify rare genetic variants associated with complex diseases. The approach enhances the power of genetic association studies by selectively choosing relevant variants, improving discovery of missing heritability.

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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

  • Genetics
  • Bioinformatics
  • Statistical genomics

Background:

  • Genome-wide association studies (GWAS) identify common variants but explain limited disease heritability.
  • The common disease/rare variants hypothesis posits that rare variants contribute significantly to complex diseases.
  • Current methods for analyzing rare variants, like collapsing methods, can be limited by variant misclassification.

Purpose of the Study:

  • To develop a data-adaptive strategy for identifying rare variants associated with complex diseases.
  • To improve the power of genetic association studies for sequencing data.
  • To address limitations of current collapsing methods in rare variant analysis.

Main Methods:

  • Development of a data-adaptive forward selection procedure to selectively choose variants.
  • Application of the strategy to Genetic Analysis Workshop 17 data with quantitative traits.
  • Evaluation of type I error rates and power of different collapsing functions.

Main Results:

  • The proposed data-adaptive strategy demonstrated substantially higher power compared to existing methods.
  • Selective variant choice improved the association signal between functional regions and disease risk.
  • The method effectively utilizes rare variant selection for association studies.

Conclusions:

  • The developed data-adaptive forward selection procedure offers a powerful new strategy for genetic association studies of sequencing data.
  • This approach enhances the discovery of rare variants contributing to complex diseases.
  • The method provides a valuable tool for uncovering missing heritability in complex traits.