MIPP-Seq: Ultra-sensitive rapid detection and validation of low-frequency mosaic mutations

MIPP-Seq provides an ultra-sensitive, low-cost approach for detecting and validating known and novel mutations in a highly scalable system with broad utility spanning both research and clinical diagnostic testing applications. The scalability of MIPP-Seq allows for multiplexing mutations and samples, which dramatically reduce costs of variant validation when compared to methods like ddPCR. By leveraging the power of individual analyses of multiple unique and independent reactions, MIPP-Seq can validate and precisely quantitate extremely low AAFs across multiple tissues and mutational categories including both indels and SNVs. Furthermore, using Illumina sequencing technology, MIPP-seq provides a robust method for accurate detection of novel mutations at an extremely low AAF. Overall design: These data contain 9 raq fastq files used for the validation of the sensitivity of MIPP-seq to assess SNVs and Indels identified in a dilution series and from human brain tissue. The raw data include up to 3 unique primer amplicons for individual mutations identified in either a control DNA for the dilution series or a panel of Autism and control brain tissues specimens. Each raw data file contains up to 96 different mutations, each barcoded using the primer sequence. Please see the MIPP-seq methods publication for further interpretations of the data. All autism data was analyzed and merged into a single set of analyzed files, located in the ASD.tar.gz