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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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: Apr 10, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome.

Panayiota L Papasavva1, Konstantinos Kaouranis2, Stefania Byrou1

  • 1Department of Molecular Genetics Thalassemia, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.

Frontiers in Genetics
|November 28, 2024
PubMed
Summary
This summary is machine-generated.

Diamond-Blackfan anemia syndrome (DBAS) diagnosis can be challenging. This case highlights how re-analyzing whole exome sequencing (WES) data with clinical insight identified a rare RPS17 gene variant, improving diagnostic accuracy for this bone marrow failure syndrome.

Area of Science:

  • Genetics
  • Hematology
  • Rare Diseases

Background:

  • Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure syndrome with genetic heterogeneity, leading to diagnostic challenges.
Keywords:
bone marrow failure syndromedata analysisdiamond-blackfan anemia syndromefilteringnext generation sequencingwhole exome sequencing

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  • Accurate genetic testing is crucial for DBAS diagnosis due to variable penetrance and expressivity.