Franklin is an advanced bioinformatics, cloud-based software platform designed to streamline genetic report generation and support clinical decision-making. 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, actionable insights.
Franklin couples raw genetic data with patient metadata, streamlines the variant interpretation process (including alignment, variant calling, and variant annotation), and shares information for user interpretation. The platform compiles publicly available datasets, laboratory-specific datasets, and real-time curated data from the professional community to generate actionable clinical insights. These insights are then compiled into a comprehensive, custom clinical-grade genetic report, supporting user interpretation and aiding in clinical decision-making.
Franklin is a medically supervised engine, and it does not make autonomous decisions. It is neither intended to be used as a primary diagnostic tool nor as a substitute for professional healthcare advice.
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 across a range of applications.
Franklin supports a diverse range of genetic analyses, including interpretation of raw NGS data for rare disease diagnostics, somatic mutation profiling, Expanded Carrier Screening (ECS), and family-based analyses such as trio or inheritance studies. 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.