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Updated: Jun 28, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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

Published on: January 16, 2019

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Identifying novel disease genes and revealing the pathomechanism of monogenic diseases

Noriko Miyake1

  • 1Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|April 20, 2024
PubMed

Insights

Researchers identified novel disease genes for over 60 monogenic diseases using advanced genomic analysis techniques. This research advances understanding of genetic disorders and aids in developing new therapies for rare conditions.

Area of Science:

  • Human Genetics
  • Genomics
  • Molecular Biology

Background:

  • Monogenic diseases stem solely from genetic factors, necessitating understanding of their pathomechanisms, particularly for early-onset conditions.
  • Identifying novel disease genes and understanding genotype-phenotype correlations are crucial for developing novel therapeutics for rare diseases.
  • Genomic analysis technologies have significantly advanced from Sanger sequencing to next-generation sequencing (NGS) and third-generation sequencing (TGS).

Purpose of the Study:

  • To provide an overview of genomic analyses for identifying novel disease genes in monogenic disorders.
  • To present examples of different genomic approaches tailored to specific disease characteristics.
  • To highlight the importance of genetic research in advancing rare disease therapeutics.

Main Methods:

  • Utilized conventional and advanced genomic analysis technologies, including Sanger sequencing, comparative genomic hybridization, next-generation sequencing (short-read), and third-generation sequencing (long-read).
  • Applied diverse analytical techniques based on individual disease characteristics to identify causative genes.
  • Collaborated with mentors and researchers to analyze genomic data from patients with various monogenic diseases.

Main Results:

  • Successfully identified genes responsible for over 60 monogenic diseases.
  • Demonstrated the utility of various genomic approaches in pinpointing novel disease genes.
  • Elucidated the link between genomic alterations and human phenotypes in multiple cases.

Conclusions:

  • Genomic analysis is a powerful tool for discovering novel disease genes in monogenic disorders.
  • Advancements in sequencing technologies have accelerated the identification of genetic causes for rare diseases.
  • This research contributes to the development of new therapeutic strategies for currently incurable rare genetic conditions.
Keywords:
disease genegenome analysismonogenic diseasepathomechanism

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