Beyond sequencing: re-visiting annotations for PJL as a test case.

ABSTRACT:

Objectives

Current developments in sequencing techniques have enabled rapid and high-throughput generation of sequence data. However, there is a growing gap between the generation of raw sequencing data and the extraction of meaningful biological information. Variant annotation is a crucial step in the analysis of genome sequencing data. Incorrect or incomplete annotations can cause researchers to dilute interesting variants in a pool of false positives. We require consistent, accurate and reliable annotation of variants for making diagnostic and treatment decisions. Current annotation depends on the set of transcripts, and software used can be managed, with sufficient care, in the research context. Careful thought needs to be given to the choice of transcript sets and software pac

SUBMITTER: Khan W 

PROVIDER: S-EPMC6670121 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature