In-House Next-Generation Sequencing (NGS) Analysis & Backup System
System Overview
An in-house NGS Tier 1–3 bioinformatics analysis and cloud-backup platform. It takes raw sequencer output (FASTQ) through an automated pipeline — alignment, variant calling (VCF), annotation and clinical interpretation — then automatically packages and securely transmits results to the cloud for offsite backup. The full bioinformatics workflow and standards are MOHW LDTS-certified.
Objectives
Builds in-house next-generation sequencing analysis capability and a standardized backup mechanism, reducing reliance on outsourced biotech analysis, ensuring the genomic data pipeline meets MOHW LDTS requirements and security standards, and achieving offsite backup and long-term data preservation.
Outcomes
Substantially shortens genetic test report turnaround time and reduces analysis cost; an LDTS-compliant certification process boosts the regulatory compliance and clinical credibility of in-house reports, while a cloud architecture safeguards the integrity and recoverability of genomic assets.