Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories

AC Smith, A Hoischen, G Raca - Cancers, 2023 - mdpi.com
Karyotyping is a technique that has been used in clinical cytogenetic laboratories for more
than 40 years. It is, to this day, a powerful view of the full human genome, still providing new …

Reproducible Bioinformatics Analysis Workflows for Detecting IGH Gene Fusions in B-Cell Acute Lymphoblastic Leukaemia Patients

AJ Thomson, JA Rehn, SL Heatley, LN Eadie, EC Page… - Cancers, 2023 - mdpi.com
Simple Summary B-cell acute lymphoblastic leukaemia (B-ALL) is a haematological
malignancy driven by diverse genomic alterations, the most common being gene fusions …

Cytogenetics analysis as the central point of genetic testing in acute myeloid leukemia (AML): a laboratory perspective for clinical applications

AA Rosli, A Azlan, Y Rajasegaran, YY Mot… - Clinical and …, 2023 - Springer
Chromosomal abnormalities in acute myeloid leukemia (AML) have significantly contributed
to scientific understanding of its molecular pathogenesis, which has aided in the …

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia

CK Cheng, YL Yung, HY Chan, KT Leung… - Communications …, 2023 - nature.com
Pediatric acute myeloid leukemia (AML) is an uncommon but aggressive hematological
malignancy. The poor outcome is attributed to inadequate prognostic classification and …