Video Experimental Relacionado

Updated: Jan 13, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Aprovechamiento de la inteligencia artificial para la predicción de variantes genómicas: avances, desafíos y

Indah Pakpahan^1,2,3, Mentari Sihombing^1,2,4, Haohan Liu²

¹Dalian University of Technology, Dalian 116000, China.

|January 10, 2026

Resumen

Los avances en inteligencia artificial (IA) mejoran la interpretación de variantes genéticas para la investigación de enfermedades. Esta revisión destaca la IA

Sus antecedentes:

La interpretación precisa de las variantes genéticas es esencial para avanzar en la investigación de enfermedades y desarrollar terapias dirigidas.
Los métodos tradicionales de interpretación de variantes enfrentan desafíos con datos genómicos complejos y la necesidad de enfoques de medicina personalizada.

Conclusiones:

La IA ofrece herramientas potentes para mejorar la precisión de la interpretación de variantes genéticas.
Se proponen estrategias para la selección mejorada de predictores, la integración de datos multi-ómicos y flujos de trabajo optimizados.
La mejora de la interpretación de variantes acelerará los avances en medicina personalizada en la investigación y la práctica clínica.

Palabras clave:

Inteligencia Artificial (IA)Predictores de Impacto de Variantes (VIPs)Variantes de Significado Incierto (VUS)integración multi-ómica bases de datos de variantes

Más Videos Relacionados

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

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

Published on: June 6, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Videos de Conceptos Relacionados

Genomics

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...

Genome-wide Association Studies-GWAS

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...

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

What is Genetic Engineering?

What is Genetic Engineering?

Issues And Trends In Healthcare Delivery System

Issues And Trends In Healthcare Delivery System

The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...

Comparing Copy Number Variations and SNPs

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%...