MedTrace Logo

Clinical Validation of Sophia Genetics Assay

NCT07160010 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 248

Last updated 2025-09-08

No results posted yet for this study

Summary

Next-generation sequencing (NGS) technologies have revolutionized the field of genomics, enabling rapid and cost-effective analysis of DNA and RNA . Among NGS methods, Illumina sequencing is the most widely used, due to its high-throughput and parallel sequencing capabilities. Nanopore sequencing, passes DNA through a nanopore, and the sequence is identified based on changes in electrical current. MGI's sequencing platforms use combinatorial probe-anchor synthesis technology to achieve high-throughput sequencing. These diverse NGS techniques have broad applications, including genome sequencing, metagenomics, and epigenetics, offering powerful tools for exploring genetic information.The main distinction between MGI and Illumina platforms lies in their methods for constructing and amplifying sequencing libraries. DNBSEQ™ utilizes circular single-stranded libraries with a central adapter, which are amplified by a rolling circle replication system to produce DNA nanoballs (DNBs). Each DNB then binds to a flowcell well via ionic bonds. Illumina technology employs linear double-stranded libraries with adapters at both ends, which are hybridized and amplified in clusters using bridge PCR. Both platforms use ordered flowcells and sequencing-by-synthesis methods. Thanks to its linear DNB amplification approach, where each replica is generated from the same original template, DNBSEQ™ technology eliminates detectable clonal amplification errors (specific to PCR) and index hopping, while also producing a very low rate of duplicated sequences. The MGI sequencer can accommodate two flowcells in parallel, each divided into four independent lanes. It is compatible only with MGI library preparation kits, while analysis pipelines developed for Illumina data are also compatible with MGI data.This study aims to compare the performance of MGI's DNBSEQ-G400 sequencing instrument with the gold-standard Illumina instruments (MiSeq and NextSeq 550) using the same DNA capture libraries constructed with Sophia Genetics assays. The goal is to assess whether MGI's platform is comparable to Illumina in profiling patients with solutions commercialized by Sophia Genetics.

Conditions

Interventions

DIAGNOSTIC_TEST

Sophia Herditary Cancer Solution

To compare the performance of MGI's DNBSEQ-G400 sequencing instrument with the gold standard Illumina instruments (MiSeq and NextSeq 550) using the same capture DNA libraries constructed with Sophia Genetics assays.

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Principal Investigators

  • Angelo Minucci · Fondazione Policlinico Universitario A. Gemelli, IRCCS

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-09-15
Primary Completion
2026-09-30
Completion
2026-12-31

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07160010 on ClinicalTrials.gov