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Updated: May 4, 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

Guide to the draft human genome.

T G Wolfsberg¹, J McEntyre, G D Schuler

¹Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

|March 10, 2001

Summary

This summary is machine-generated.

Investigating the human genome involves multiple approaches, including DNA sequencing. Modern information technology, especially the internet, is crucial for integrating diverse genomic data to advance biomedical research.

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Area of Science:

Genomics
Bioinformatics
Human Genetics

Background:

The human genome can be studied through various methods like chromosome morphology, genetic mapping, and gene characterization.
The elucidation of the human genomic DNA sequence provides a new layer of information.

Purpose of the Study:

To provide an overview of diverse human genome information sources.
To highlight the role of information technology in integrating genomic data.

Main Methods:

Reviewing established methods for human genome investigation.
Describing the significance of the human DNA sequence.
Discussing the application of internet technologies for data linkage.

Main Results:

Multiple data sources exist for human genome research.
The human genome sequence is a valuable addition to existing data.
The internet enables the integration of disparate genomic datasets.

Conclusions:

Integrating diverse human genome data is essential for future biomedical research.
Information technology, particularly the internet, is key to creating a unified genomic information infrastructure.