NEXome Mini Panel v1.0 Compared with traditional detection technologies for inherited diseases, whole exome sequencing has significant advantages in improving diagnostic accuracy, discovering new types of variations, and conducting deep sequencing. However, whole exome sequencing faces challenges in clinical inherited diseases detection, such as the loss of information in important variant regions due to insufficient coverage depth. Additionally, the vast amount of sequencing data poses challenges for bioinformatics analysis. Therefore, Nanodigmbio launched the NEXome Mini Panel v1.0, designed specifically for clinical inherited diseases. By focusing on core gene regions, this panel provides a more efficient and cost-effective solution for clinical genetic disease detection. NEXome Mini Panel v1.0 focuses on the exome associated with clinical inherited diseases, with probe coverage spanning a 16.1 Mb genomic region involving 5,650 clinically significant genes and encompassing over 4,000 genetic disorders. In comparison to the whole exome panel, the NEXome Mini Panel can be used to rapidly and efficiently detect pathogenic genetic variations within target genes in the human genome. This not only reduces sequencing costs but also significantly shortens data analysis time. Highly Targeted: Focuses on the exome associated with clinical inherited diseases, covering a 16.1 Mb genomic region, involving 5,650 genes related to over 4,000 clinical genetic disorders. High Accuracy: Based on the probe hybridization capture principle, it can accurately detect genetic variations within target genes, providing reliable data support for subsequent research. High Efficiency: Compared to the whole exome panel, the NEXome Mini Panel can rapidly detect pathogenic genetic variations within target genes, thereby reducing data analysis time and minimizing turnaround time. Cost-effective: Aim to only include clinically significant regions specifically related to inherited diseases, effectively reducing sequencing costs. Normalized coverage Capture Performance Figure 1. Capture performance of NEXome XP Panel v1.0. Cell Line gDNA Standard (Coriell, NA12878) were used to prepare library with the NadPrep DNA Library Preparation Kit (for Illumina®). NEXome Mini Panel v1.0 were used to complete hybridization capture. The BWA was used for alignment of raw reads to the reference genome (hg38). A. Mappability, On-target rate, and target coverage; B. GC Bias. Note: Sequencing platform: Illumina Novaseq 6000，PE150.

High Confidence Variant Calls Sensitivity Calling rate (%) Figure 2. Sensitivity and positive predictive value (PPV) of NEXome Mini Panel Covered region Covered region More Efficient and Cost-effective A NEXome Core Panel NEXome Mini Panel Mean depth Figure 3. The NEXome Mini Panel reduces sequencing raw data to minimize costs. A. Minimum amount of raw data required for the NEXome Mini Panel and NEXome Core Panel to achieve a specific depth; B. Coverage region and relationship between the NEXome Mini Panel and NEXome Core Panel. Ordering Information Product NEXome Mini Panel v1.0, 16 rxn NEXome...