Spectrum of gene mutations identified by targeted next-generation sequencing in Chinese leukemia patients.

ABSTRACT:

Background

Despite targeted sequencing have identified several mutations for leukemia, there is still a limit of mutation screening for Chinese leukemia. Here, we used targeted next-generation sequencing for testing the mutation patterns of Chinese leukemia patients.

Methods

We performed targeted sequencing of 504 tumor-related genes in 109 leukemia samples to identify single-nucleotide variants (SNVs) and insertions and deletions (INDELs). Pathogenic variants were assessed based on the American College of Medical Genetics and Genomics (ACMG) guidelines. The functional impact of pathogenic genes was explored through gene ontology (GO), pathway analysis, and protein-protein interaction network in silico.

Results

We identified a total of 4,655 SNVs and 614 INDELs in 419

SUBMITTER: Yao H 

PROVIDER: S-EPMC7507579 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature