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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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Evolutionary Relationships through Genome Comparisons02:54

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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...
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Genome Annotation and Assembly03:36

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Related Experiment Video

Updated: May 30, 2025

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants
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eNSMBL-PASD: Spearheading early autism spectrum disorder detection through advanced genomic computational frameworks

Ayesha Karim1, Nashwan Alromema2, Sharaf J Malebary3

  • 1Department of Computer Science, School of Systems and Technology, University of Management and Technology, Lahore, Pakistan.

Digital Health
|January 28, 2025
PubMed
Summary

A new computational model, eNSMBL-PASD, accurately predicts autism spectrum disorder (ASD) driver genes using genomic data. This tool aids in early ASD detection and intervention planning.

Keywords:
Autism spectrum disorderRandom Forestautism detectionensemble modelingmachine learning general

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Area of Science:

  • Computational biology
  • Genetics
  • Neurodevelopmental disorders

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with no definitive early diagnostic tests.
  • Early diagnosis and intervention are crucial for improving outcomes in ASD.
  • Identifying genetic factors is key to understanding and diagnosing ASD.

Purpose of the Study:

  • To develop a computational model for predicting autism spectrum disorder (ASD) driver genes.
  • To utilize genomic data for early ASD detection.
  • To enhance early intervention strategies for ASD.

Main Methods:

  • A benchmark genomic dataset was processed using feature extraction.
  • Ensemble classification methods (e.g., Extreme Gradient Boosting, Random Forest) were employed.
  • The Ensemble Model Predictor for Autism Spectrum Disorder (eNSMBL-PASD) was developed and validated.

Main Results:

  • The eNSMBL-PASD model achieved 100% accuracy in self-consistency tests.
  • Independent set and cross-validation tests showed 91% and 87% accuracy, respectively.
  • The model demonstrated robust and reliable prediction of ASD-related genes.

Conclusions:

  • The eNSMBL-PASD model shows promise for early ASD detection through genetic marker identification.
  • This tool can assist healthcare professionals in diagnosing and planning treatments for ASD.
  • Further development could significantly impact early intervention for individuals with ASD.