Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

ABSTRACT: Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous disorders with cytopenia. Many IBMFSs also feature physical malformations and an increased risk of cancer. Point mutations can be identified in about half of patients. Copy number variation (CNVs) have been reported; however, the frequency and spectrum of CNVs are unknown. Unfortunately, current genome-wide methods have major limitations since they may miss small CNVs or may have low sensitivity due to low read depths. Herein, we aimed to determine whether reanalysis of NGS panel data by normalized coverage value could identify CNVs and characterize them. To address this aim, DNA from IBMFS patients was analyzed by a NGS panel assay of known IBMFS genes. After analysis for point mutations, heterozygous and homoz

SUBMITTER: Lauhasurayotin S 

PROVIDER: S-EPMC6901453 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature