Related Experiment Video
Updated: Jul 24, 2025
08:57
Using Phylogenetic Analysis to Investigate Eukaryotic Gene Origin
Published on: August 14, 2018
16.0K
Bayesian estimation of gene constraint from an evolutionary model with gene features.
Tony Zeng1, Jeffrey P Spence1, Hakhamanesh Mostafavi1
1Department of Genetics, Stanford University, Stanford CA.
Research Square
|July 3, 2023
Summary
Existing methods for measuring gene constraint fail for short genes, potentially missing disease-causing mutations. Our new framework, GeneBayes, accurately assesses gene constraint, improving identification of disease-related genes, especially shorter ones.
Area of Science:
- Genomics
- Population Genetics
- Bioinformatics
Background:
- Selective constraint metrics are vital for interpreting genetic variants, discovering disease genes, and studying genome evolution.
- Current metrics are limited, particularly for shorter genes, risking the oversight of critical pathogenic mutations.
Conclusions:
- The new constraint metric and GeneBayes framework offer significant improvements for gene characterization in human disease research.
- Accurate constraint estimation, especially for short genes, is crucial for clinical interpretation and disease gene discovery.
- The GeneBayes platform provides a versatile tool for advancing various gene-level analyses, including rare variant burden and gene expression studies.
Related Concept Videos
02:05Gene Evolution - Fast or Slow?
7.2K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
In contrast, regions which code...
7.2K
01:09Mutation, Gene Flow, and Genetic Drift
58.7K
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).
58.7K
02:54Evolutionary Relationships through Genome Comparisons
5.8K
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...
5.8K
03:21Genome Size and the Evolution of New Genes
2.5K
2.5K
01:25Genetic Variation
329
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,...
Genes exist in different versions called alleles,...
329
02:33Combinatorial Gene Control
8.4K
Combinatorial gene control is the synergistic action of several transcriptional factors to regulate the expression of a single gene. The absence of one or more of these factors may lead to a significant difference in the level of gene expression or repression.
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
8.4K