Related Experiment Video
Updated: Feb 27, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.9K
High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders
Journal of Thrombosis and Haemostasis : JTH
|July 4, 2017
Summary
Genetic heterogeneity in bleeding and platelet disorders (BPDs) is vast. High-throughput sequencing advances diagnostics, but novel gene discovery and variant interpretation are crucial for identifying unknown BPD causes.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Hereditary bleeding and platelet disorders (BPDs) exhibit significant genetic heterogeneity.
- Advances in high-throughput sequencing (HTS) are rapidly expanding the list of genes associated with BPDs.
Purpose of the Study:
- To highlight the growing diagnostic yield of HTS in identifying genetic causes of BPDs.
- To emphasize the need for further research to uncover novel etiologies and improve diagnostic rates for complex BPD cases.
Main Methods:
- Application of high-throughput sequencing (HTS) in research and diagnostics for BPDs.
- Analysis of genetic variants, including novel genes and modes of inheritance.
Main Results:
- HTS improves diagnostic yield for BPD patients, especially those with known phenotypes.
- Diagnostic yield drops significantly for novel disorders, indicating a need for further genetic discovery.
Conclusions:
- Continued research is essential to identify unknown BPD etiologies and implicated novel genes.
- Understanding non-coding variants and transitioning to whole-genome sequencing are critical for future BPD diagnostics.
