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Next‐generation sequencing in hypoplastic bone marrow failure: What difference does it make?
Author(s) -
Skibenes Sofie T.,
Clausen Ida,
RaaschouJensen Klas
Publication year - 2021
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.13513
Subject(s) - bone marrow , medicine , bone marrow failure , bone marrow transplantation , pathology , bioinformatics , intensive care medicine , biology , stem cell , haematopoiesis , genetics
Hypoplastic bone marrow failure is a diagnostic feature of multiple haematological disorders, which also share a substantial overlap of clinical symptoms. Hence, discrimination of underlying disorders in patients presenting with hypoplastic bone marrow failure remains a major challenge in the clinic. Recent next‐generation sequencing (NGS) studies have broadened our understanding of the varying molecular mechanisms and advanced diagnostics of disorders exhibiting hypoplastic bone marrow failure. In this article, we present a literature review of NGS studies of haematological disorders associated with hypoplastic bone marrow failure and highlight the relevance of NGS for improved clinical diagnostics and decision‐making.