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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.
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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...
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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.
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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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...
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Sparse Convolutional Neural Networks for Genome-Wide Prediction.

Patrik Waldmann1, Christina Pfeiffer2, Gábor Mészáros2

  • 1Department of Animal Breeding and Genetics, The Swedish University of Agriculutural Sciences, Uppsala, Sweden.

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|March 3, 2020
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Summary

A new deep learning method, CNNGWP, enhances genome-wide prediction (GWP) accuracy by over 25% in simulations and 3% in pigs. This computationally efficient approach offers a promising advancement for artificial selection in breeding programs.

Keywords:
QTLdeep learningdominancegenomic selectionlivestock breedingmachine learning

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Area of Science:

  • Genomics
  • Artificial Intelligence
  • Animal Breeding

Background:

  • Genome-wide prediction (GWP) is crucial for artificial selection, facing challenges with large datasets.
  • Machine learning, particularly neural networks (NN) and deep learning (DL), shows potential but is underutilized in GWP.
  • Computational efficiency is a key consideration for GWP methods.

Purpose of the Study:

  • To introduce a novel, powerful, and extensible neural network method for GWP.
  • To leverage deep learning for improved prediction accuracy and computational efficiency in genomic selection.
  • To evaluate the performance of the proposed method against existing GWP approaches.

Main Methods:

  • A one-dimensional convolutional neural network (CNN) was developed, named CNNGWP, to utilize ordinal marker information.
  • The CNNGWP incorporates pooling and ℓ1-norm regularization for sparsity and computational efficiency.
  • Hyper-parameters were optimized using Bayesian optimization, and model-averaged ensemble predictions were employed.

Main Results:

  • CNNGWP demonstrated a significant reduction in prediction error, exceeding 25% on simulated data.
  • The method achieved approximately 3% improvement in prediction error on real pig data compared to GBLUP and LASSO.
  • The CNNGWP approach proved to be computationally efficient for large-scale genomic datasets.

Conclusions:

  • CNNGWP presents a promising and powerful deep learning approach for genome-wide prediction.
  • The method offers improved accuracy and computational efficiency, particularly for complex genetic architectures.
  • Further research may explore its application across diverse species and genetic scenarios, considering heritability impacts.