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RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data.

Joseph K Aicher¹, Dina Issakova², Barry Slaff³

¹Department of Genetics, Perelman School of Medicine, University of Pennsylvania (Philadelphia, USA).

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|June 10, 2026

Summary

MAJIQ-CLIN enhances Mendelian genetic disorder diagnosis by accurately detecting RNA splicing aberrations from RNA sequencing data. This tool improves diagnostic rates for rare diseases by identifying crucial splice-altering variants.

Keywords:

RNA-Seq bioinformatics diagnostics rare disease splicing

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Last Updated: Jun 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

The diagnostic rate for Mendelian genetic disorders remains low, even with exome/genome sequencing (ES/GS).
Traditional ES/GS methods often fail to detect RNA splicing aberrations, which are implicated in many genetic disorders.
Developing tools to analyze RNA splicing variations is critical for improving genetic diagnoses.

Purpose of the Study:

To develop and evaluate MAJIQ-CLIN, a computational tool for identifying RNA splicing aberrations in patient RNA sequencing data.
To improve the detection, quantification, prioritization, and visualization of splice-altering variants.
To enhance the diagnostic yield for Mendelian genetic disorders.

Main Methods:

MAJIQ-CLIN was developed to compare patient RNA sequencing data against control cohorts.
The method efficiently processes large datasets and identifies local splicing variations (LSVs) as outlier (oLSV) or private (pLSV) events.
Systematic evaluation used synthetic and real-world datasets, including solved cases and analysis of unsolved patient cases from the Undiagnosed Diseases Network.

Main Results:

MAJIQ-CLIN demonstrated high accuracy in detecting various RNA splicing aberrations across different transcript inclusion levels.
The tool showed favorable performance compared to existing methods in both accuracy and efficiency.
MAJIQ-CLIN successfully identified splice-altering variants in unsolved patient cases.

Conclusions:

MAJIQ-CLIN provides an efficient and accurate solution for analyzing RNA splicing aberrations.
The tool aids in the diagnosis of Mendelian genetic disorders by identifying causative variants from RNA-Seq data.
MAJIQ-CLIN is a user-friendly resource for clinical geneticists and researchers.