Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma.

ABSTRACT:

Background

In the clinical setting, workflows for analyzing individual genomics data should be both comprehensive and convenient for clinical interpretation. In an effort for comprehensiveness and practicality, we attempted to create a clinical individual whole exome sequencing (WES) analysis workflow, allowing identification of genomic alterations and presentation of neurooncologically-relevant findings.

Methods

The analysis workflow detects germline and somatic variants and presents: (1) germline variants, (2) somatic short variants, (3) tumor mutational burden (TMB), (4) microsatellite instability (MSI), (5) somatic copy number alterations (SCNA), (6) SCNA burden, (7) loss of heterozygosity, (8) genes with double-hit, (9) mutational signatures, and (10) pathway enrichment

SUBMITTER: Ulgen E 

PROVIDER: S-EPMC7903763 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature