Bone marrow transplantation has been an essential procedure for the treatment of various malignant and non-malignant diseases, with the clinical outcome significantly dependent on the quality and quantity of hematopoietic…
Publication in Genetics in MedicinePublished 26 March 2021Absence of heterozygosity (AOH) is a genetic characteristic known to cause human genetic disorders through autosomal recessive or imprinting mechanisms. Low-pass genome sequencing…
Publication in Human GeneticsPublished 29 July 2020Chromosomal insertions are thought to be rare structural rearrangements. In this study, we sequenced 16 cases with apparent simple insertions previously identified by karyotyping…