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...
Main Authors: | , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-04-01
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Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12920-023-01495-x |