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 analysis, enabling the identification and classification of genetic variants, annotating them with relevant information, and delivering meaningful, insights for research.
The platform integrates raw genetic data with relevant patient metadata and applies validated pipelines for alignment, variant calling, annotation, and interpretation for research purposes. The platform compiles publicly available datasets, laboratory-specific datasets, and real-time curated data from the professional community to generate insights. These insights are then compiled into a comprehensive, custom genetic report, supporting user interpretation for research activities.
Intended Users
Intended users are laboratories, hospitals, or other organizations specializing in genetic analysis, interpretation, and reporting for research purposes, staffed 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 samples, it requires processed genetic sequence data (e.g., FASTQ, BAM, VCF files) that originate from specimens such as whole blood, cord blood, dried blood spots, saliva swabs, cultured fibroblasts, frozen tissues, etc.
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 detect, annotate, and classify genetic variants for research purposes.
Supported Applications
The platform is compatible with data generated from various sequencing technologies, including Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Chromosomal Microarray Analysis (CMA), and targeted gene panels.
Nature of Output Provided
Franklin delivers qualitative, semi-quantitative, and quantitative outputs to support genetic data for research purposes
Limitations
Franklin is a medically research purpose engine, and 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 simplicity, it is referred to as “Franklin” throughout the Instruction For Use.