Article

Targeted next generation sequencing panel based screening and diagnosis of bone marrow failure cohort reveals diverse genomic landscape of pathogenic germline variants

2022-11-07

Abstract excerpt

<h4>Introduction: </h4> Current study is a 4 year experience in diagnosis and screening of bone marrow failure cases using a targeted sequencing panel. <h4>Methods: </h4>: A total of 171 cases underwent targeted NGS and were categorized as suspected inherited bone marrow failure syndrome (IBMFS) group (106/62%) and idiopathic aplastic anemia (IAA) group (65/38%) based on clinical and laboratory criteria. <h4>Resul...

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Literature Corpus work: f70d18f7-07b9-57ec-933b-68bee56123aa
DOI: 10.21203/rs.3.rs-2229099/v1

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