HIGHLIGHTS
- who: Anna Minaidou et al. from the Human and Clinical Genetics Department, Leiden University Medical Center, POBox, ZC Leiden, The Netherlands have published the paper: A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies, in the Journal: (JOURNAL)
- what: The authors compile and analyse all the available evidence related to CNVs associated with haemoglobinopathies and the authors develop an open web tool to facilitate the identification and diagnosis of haemoglobinopathy-specific CNVs. And despite rigorous research, 9.27% (27/291) of all the CNVs presented in this study have . . .
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