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Updated: Jul 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Internet resources for genomic, bioinformatics, and medical genetics information
Tamara J Phillips1, J K Belknap, R J Hitzemann
1Veterans Affairs Medical Center and Oregon Health & Science University, Portland, Oregon, USA.
Identifying genes for complex diseases is challenging due to multiple genetic and environmental factors. This resource guide helps researchers navigate available genetic data and analysis tools to advance complex trait genetics research.
Area of Science:
- Genetics
- Genomics
- Bioinformatics
Background:
- Complex diseases arise from interactions between multiple genes and environmental factors.
- Each gene's contribution to disease probability may be small, making identification difficult.
- The influence of single genes can be amplified by other genetic and environmental factors.
Purpose of the Study:
- To provide a comprehensive overview of publicly available resources for genetic and genomic data.
- To highlight tools for analyzing complex genome data.
- To inform researchers about funding and ethical considerations in genetic disease trait analysis.
Main Methods:
- The study describes web-based resources.
- It covers data repositories, analysis tools, funding information, and ethical/legal/social issues (ELSI).
Main Results:
- Numerous online resources exist for genetic and genomic data.
- Tools are available for analyzing complex trait genetics.
- Information on funding and ELSI is accessible.
Conclusions:
- Access to shared data and tools is vital for coordinating research efforts in complex trait genetics.
- This guide facilitates efficient research by consolidating information on essential resources.
- Researchers can leverage these resources to address the challenges of identifying genetic contributors to disease.
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