Comprehensive genetic diagnosis of acute myeloid leukemia by next-generation sequencing.

ABSTRACT: Differential induction therapy of all subtypes of acute myeloid leukemia other than acute promyelocytic leukemia is impeded by the long time required to complete complex and diverse cytogenetic and molecular genetic analyses for risk stratification or targeted treatment decisions. Here, we describe a reliable, rapid and sensitive diagnostic approach that combines karyotyping and mutational screening in a single, integrated, next-generation sequencing assay. Numerical karyotyping was performed by low coverage whole genome sequencing followed by copy number variation analysis using a novel algorithm based on in silico-generated reference karyotypes. Translocations and DNA variants were examined by targeted resequencing of fusion transcripts and mutational hotspot regions using commerc

SUBMITTER: Mack EKM 

PROVIDER: S-EPMC6355503 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature