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Updated: May 1, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
36.1K
Next-generation sequencing applied to rare diseases genomics
Krissi Danielsson1, Liew Jun Mun, Amanda Lordemann
1Rare Genomics Institute, 4100 Forest Park Ave, Suite 204, St. Louis, MO 63108, USA.
Expert Review of Molecular Diagnostics
|April 8, 2014
Summary
Genomic sequencing advances rare disease research, identifying new discoveries and overcoming implementation hurdles. Future outlook includes third-generation sequencing and informatics solutions.
Area of Science:
- Genomics
- Rare Diseases
- Bioethics
Background:
- Genomics has transformed the study of rare diseases.
- Technological advancements enable deeper understanding of genetic disorders.
Purpose of the Study:
- To review the latest technological developments in genomics for rare diseases.
- To discuss rare disease discoveries, implementation challenges, and bioethical considerations.
- To explore the future outlook of clinical genomics.
Main Methods:
- Overview of genome and exome sequencing technologies, including next-generation platforms.
- Survey of pioneering research centers and discoveries in rare diseases.
- Discussion of implementation obstacles (results return, consent, privacy) and future needs.
Main Results:
- Next-generation sequencing has led to significant rare disease discoveries.
- Clinical implementation faces challenges related to data handling and ethics.
- Third-generation sequencing and improved informatics are on the horizon.
Conclusions:
- Genomics is a powerful tool for rare disease research and diagnosis.
- Addressing implementation and ethical challenges is crucial for wider clinical adoption.
- Continued technological and informatics advancements will further accelerate progress.
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