Test development, optimization and validation of a WGS pipeline for genetic disorders.

ABSTRACT:

Background

With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pipeline testing for clinical WGS are lacking.

Methods

In this study, we introduced a whole WGS pipeline for genetic disorders, which included the entire process from obtaining a sample to clinical reporting. All samples that underwent WGS were constructed using polymerase chain reaction (PCR)-free library preparation protocols and sequenced on the MGISEQ-2000 platform. Bioinformatics pipelines were developed for the simultaneous detection of various types of variants, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number v

SUBMITTER: Yang Z 

PROVIDER: S-EPMC10077614 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature