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Updated: May 5, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
36.1K
Whole-exome/genome sequencing and genomics.
Wayne W Grody1, Barry H Thompson, Louanne Hudgins
1FAAP, FACMG, Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine/Lucile Packard Children's Hospital, 300 Pasteur Dr, H315, Stanford, CA 94305-5208. lhudgins@stanford.edu.
Pediatrics
|December 4, 2013
Summary
Genomic analysis, including next-generation sequencing, is transforming pediatric medicine. This technology aids in diagnosing rare congenital conditions, requiring healthcare providers to understand its clinical applications and challenges.
Area of Science:
- Medical Genomics
- Clinical Genetics
- Molecular Biology
Background:
- Medical genetics has evolved towards understanding gene-clinical disorder relationships, emphasizing genomics.
- Genomics studies the entire genome, comprising over 6 billion nucleotides and approximately 23,000 protein-coding genes in humans.
Purpose of the Study:
- To introduce primary care providers to human genomic analysis.
- To discuss the clinical applicability of genomics, particularly in pediatrics.
- To highlight the implications of new sequencing technologies.
Main Methods:
- Review of the Human Genome Project milestones.
- Discussion of massively parallel DNA sequencing (next-generation sequencing).
- Exploration of current clinical applications in diagnosing undiagnosable congenital conditions.
Main Results:
- The Human Genome Project provided a comprehensive human genome sequence.
- Next-generation sequencing enables whole-genome analysis in clinical settings.
- Genomic analysis is increasingly used for diagnosing rare pediatric disorders.
Conclusions:
- Genomic analysis, especially next-generation sequencing, is crucial for diagnosing challenging pediatric conditions.
- Pediatricians need to be knowledgeable about genomic technologies, their capabilities, limitations, and ethical considerations.
- Genomic information is rapidly translating into actionable clinical knowledge for healthcare providers.
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