Finding a suitable library size to call variants in RNA-Seq.

ABSTRACT:

Background

RNA sequencing allows the study of both gene expression changes and transcribed mutations, providing a highly effective way to gain insight into cancer biology. When planning the sequencing of a large cohort of samples, library size is a fundamental factor affecting both the overall cost and the quality of the results. Here we specifically address how overall library size influences the detection of somatic mutations in RNA-seq data in two acute myeloid leukaemia datasets. RESULTS : We simulated shallower sequencing depths by downsampling 45 acute myeloid leukaemia samples (100 bp PE) that are part of the Leucegene project, which were originally sequenced at high depth. We compared the sensitivity of six methods of recovering validated mutations on the same samples. The

SUBMITTER: Quaglieri A 

PROVIDER: S-EPMC7708150 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature