Related Experiment Video
Updated: Mar 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing
Annabel Maclachlan1, Steve P Watson1, Neil V Morgan1
1a Institute of Cardiovascular Sciences, College of Medical and Dental Sciences , University of Birmingham , Birmingham , B15 2TT , UK.
Next-generation sequencing (NGS) aids in diagnosing inherited platelet disorders (IPDs) by analyzing genes involved in platelet function. While interpreting vast genetic data presents challenges, NGS is crucial for understanding IPD genetics.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Inherited platelet disorders (IPDs) present diagnostic challenges due to variable platelet counts and bleeding severity.
- Current diagnostic methods rely on clinical presentation and standard hematology assays, lacking a gold standard for platelet function.
- A DNA-based approach is essential for investigating IPDs.
Purpose of the Study:
- To highlight the role of Next-Generation Sequencing (NGS) in diagnosing Inherited Platelet Disorders (IPDs).
- To discuss the application of NGS in identifying known and novel genes associated with platelet dysfunction.
- To address the challenges and potential of NGS in genetic variant interpretation for IPDs.
Main Methods:
- Utilizing Next-Generation Sequencing (NGS) for rapid gene analysis in patients with suspected IPDs.
- Employing Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) to analyze the genetic landscape.
- Applying bioinformatic analysis to interpret large volumes of genetic data and identify candidate variants.
Main Results:
- NGS enables the analysis of numerous genes implicated in platelet regulation and IPDs.
- Challenges exist in interpreting the extensive genetic information generated by WES and WGS.
- Identifying function-disrupting variants and verifying genotype-phenotype correlations remain complex.
Conclusions:
- NGS is a powerful tool for advancing the understanding of platelet function mechanisms and IPD genetics.
- Despite interpretation challenges, NGS significantly contributes to the investigation of inherited platelet disorders.
- Further research is needed to refine phenotype-genotype segregation for complex genetic disorders.
More Related Videos
05:49Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets
Published on: November 29, 2024
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Related Concept Videos
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Structure and Function of Platelets
Platelets are continually replenished, circulating in the bloodstream for 9-12 days before being removed by phagocytes, primarily in the spleen. A microliter of circulating blood contains between 150,000 and 450,000...
Pharmacogenomics: Identification of New Drug Targets
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Genomics