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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

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Updated: Jul 23, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Platelet genetic testing by next-generation sequencing: A practical update.

Dong Chen¹, Rajiv K Pruthi¹

¹Special Coagulation Laboratory, Division of Hematopathology, Mayo Clinic, Rochester, Minnesota, USA.

International Journal of Laboratory Hematology

|July 18, 2023

Summary

This summary is machine-generated.

Diagnosing inherited platelet disorders (IPDs) is challenging due to overlapping symptoms. Genetic testing using next-generation sequencing (NGS) is becoming crucial for accurate diagnosis of these bleeding disorders.

Keywords:

inherited platelet disorder thrombocytopenia

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

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Published on: August 25, 2019

Area of Science:

Hematology
Genetics
Molecular Diagnostics

Background:

Inherited platelet disorders (IPDs) present with variable platelet counts and bleeding tendencies, often with or without other organ involvement.
Diagnostic challenges arise from non-specific platelet function tests and overlapping clinical/laboratory features.
Accurate diagnosis of IPDs is essential for appropriate management and genetic counseling.

Purpose of the Study:

To highlight the diagnostic challenges in inherited platelet disorders.
To emphasize the growing role of genetic testing in IPD diagnosis.
To underscore the importance of a comprehensive approach combining clinical, laboratory, and genetic data.

Main Methods:

Review of current diagnostic approaches for IPDs.
Discussion of the application of next-generation sequencing (NGS) technologies.
Emphasis on the necessity of phenotype and genotype correlation studies.

Main Results:

Next-generation sequencing (NGS) offers a powerful tool for rapid, multi-gene analysis in IPDs.
NGS facilitates the identification of genetic underpinnings of IPDs, improving diagnostic accuracy.
Systemic testing and detailed correlation studies are vital for confirming diagnoses.

Conclusions:

Genetic testing, particularly NGS, is increasingly integral to the investigation of IPDs.
A combined approach of clinical evaluation, laboratory testing, and genetic analysis is critical for accurate IPD diagnosis.
Further research and application of genetic technologies will enhance the understanding and management of IPDs.