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

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Enriching for Answers in Rare Diseases.

Yilei Fu, Adam C English, Luis F Paulin

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|November 24, 2025

Summary

We developed Trio-barcoded ONT Adaptive Sampling (TBAS), a cost-effective method for sequencing rare-disease families using long-read technology. This approach enhances variant detection and phasing, offering a potential 77% solve rate for genetic diagnostics.

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Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function

Detection and Enrichment of Rare Antigen-specific B Cells for Analysis of Phenotype and Function

Published on: February 16, 2017

Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Rare genetic diseases pose significant diagnostic challenges.
Long-read sequencing offers advantages for complex variant detection but can be costly.
Efficiently sequencing multiple samples, like trios, on a single platform is desirable.

Purpose of the Study:

To introduce Trio-barcoded ONT Adaptive Sampling (TBAS) as a cost-efficient long-read sequencing strategy.
To enable comprehensive genetic analysis of rare-disease trios on a single PromethION flow cell.
To improve the diagnostic yield and reduce the cost of long-read sequencing for rare diseases.

Main Methods:

Developed TBAS by combining sample barcoding and adaptive enrichment for long-read sequencing.
Applied TBAS to sequence rare-disease trios on an Oxford Nanopore PromethION platform.
Integrated bioinformatics pipelines for variant calling, phasing, and structural variant detection.

Main Results:

TBAS achieved near-complete variant phasing and high-accuracy detection of small variants, structural variants, and tandem repeats.
Demonstrated a 77% potential solve rate for rare-disease trios.
Retained valuable methylation data, crucial for certain genetic diagnoses.
Showcased scalability and cost-efficiency compared to existing long-read methods.

Conclusions:

TBAS is a scalable and cost-effective long-read sequencing strategy for rare-disease trio analysis.
This approach significantly enhances the potential for accurate genetic diagnosis of rare diseases.
TBAS enables clinically relevant, phenotype-guided long-read diagnostics at reduced costs.