ArticleBritish journal of haematology2016
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Article in British journal of haematology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.American journal of hematology · 2019Guideline
- Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.Annals of hematology · 2020Trial
- Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.Annals of hematology · 2026Article
- Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Advances on the genetic basis of red cell membrane disorders.Current opinion in hematology · 2025Review
- Ropeginterferon alfa-2b as a promising alternative to conventional interferon in CDA type 1: a case report of two siblings.Clinical and experimental medicine · 2025Article
- Real-world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next-generation sequencing anaemia screening programme.British journal of haematology · 2025Article
- Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in theFrontiers in genetics · 2025Article
- DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.Orphanet journal of rare diseases · 2024Article
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
- Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.Diagnostics (Basel, Switzerland) · 2023Article
- Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia.Blood research · 2022Review
- The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.HemaSphere · 2022Article
- Ablation ofInternational journal of molecular sciences · 2022Article
- Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).BMC medical genomics · 2022Article
- Diagnosis and clinical management of enzymopathies.Hematology. American Society of Hematology. Education Program · 2021Article
- Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.EJHaem · 2021Article
- Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.Haematologica · 2021Article
- The EHA Research Roadmap: Anemias.HemaSphere · 2021Article
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Authors and funding
28 authors.
Funding
Abstract
Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation of negative results requires the test to distinguish between lack of adequate sequencing reads at the locations of known mutations and a real absence of mutations. To achieve a clinically-reliable diagnostic test and minimize false-negative results we developed an open-source tool (CoverMi) to accurately determine base-coverage and the 'discoverability' of known mutations for every sample. We validated our 33-gene panel using Sanger sequencing and microarray. Our panel demonstrated 100% specificity and 99·7% sensitivity. We then analysed 57 clinical samples: molecular diagnoses were made in 22/57 (38·6%), corresponding to 32 mutations of which 16 were new. In all cases, accurate molecular diagnosis had a positive impact on clinical management. Using a validated NGS-based platform for routine molecular diagnosis of previously undiagnosed congenital anaemias is feasible in a clinical diagnostic setting, improves precise diagnosis and enhances management and counselling of the patient and their family.
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