Platform Overview
Franklin is a variant analysis research tool for analyzing human genetics data and is not intended to be used for diagnostic purposes.
It provides a comprehensive framework and tools for genomic data management and analysisenabling the identification and classification of genetic variantsannotating them with relevant informationand delivering meaningfulinsights for research.
The platform integrates raw genetic data with relevant patient metadata and applies validated pipelines for alignmentvariant callingannotationand interpretation for research purposes. The platform compiles publicly available datasetslaboratory-specific datasetsand real-time curated data from the professional community to generate insights. These insights are then compiled into a comprehensivecustom genetic reportsupporting user interpretation for research activities.
Intended Users
Intended users are laboratorieshospitalsor other organizations specializing in genetic analysisinterpretationand reporting for research purposesstaffed by genetic specialists with advanced expertise in genetics.
Intended Population
Franklin is intended for use on genomic data obtained from individuals undergoing genetic testing in various contexts.
Type of Specimen(s) Required
Franklin operates on in vitro genomic data derived from human biological specimens. While the platform itself does not handle physical samplesit requires processed genetic sequence data (e.g.FASTQBAMVCF files) that originate from specimens such as whole bloodcord blooddried blood spotssaliva swabscultured fibroblastsfrozen tissuesetc.
Operating Principles
Franklin operates by processing and interpreting next-generation sequencing (NGS) data derived from human biological specimens. The platform utilizes validated bioinformatics pipelines to detectannotateand classify genetic variants for research purposes.
Supported Applications
The platform is compatible with data generated from various sequencing technologiesincluding Whole Exome Sequencing (WES)Whole Genome Sequencing (WGS)Chromosomal Microarray Analysis (CMA)and targeted gene panels.
Nature of Output Provided
Franklin delivers qualitativesemi-quantitativeand quantitative outputs to support genetic data for research purposes
Limitations
Franklin is a medically research purpose engineand it does not make autonomous decisions. It is neither intended to be used for diagnostic purposes.
Identifying information
The formal trade name of the software is “Franklin by QIAGEN.” For simplicityit is referred to as “Franklin” throughout the Instruction For Use.