A Bioinformatics Ecosystem for High Throughput MAVE-SGE Experiments

Poster Abstract: Matthew Forbes, Bioinformatics Delivery Manager (MAVE), Wellcome Sanger Institute

Abstract

Background: Multiplexed assays of variant effect (MAVEs) have become a widely adopted approach for systematically assessing the functional consequences of genetic variation, with saturation genome editing (SGE) emerging as a powerful CRISPR-based MAVE technique that enables variant impact to be measured in its native genomic context. A key challenge to scaling these experiments lies in the lack of integrated bioinformatics workflows supporting the entire MAVE-SGE process — from target design to laboratory execution, through to the analysis and interpretation of next-generation sequencing data. In this poster, we present the conceptual framework underpinning the Sanger Institute’s MAVE Programme for building scalable informatics solutions. Central to this approach is the concept of the “targeton”: a consistently sized segment of the target sequence that provides a standardised unit for designing, executing, and analysing MAVE-SGE experiments. We outline how this concept informs the design of robust workflows for targeton selection, supports laboratory processes, and enables high-throughput analysis and interpretation of functional data at scale. We also describe the technical capabilities and technology stack on which these solutions will be built. This work aims to enable a scalable, end-to-end MAVE-SGE pipeline that produces high-quality data and expands the potential impact across a broad range of target genes.