Primary T-Cell GUIDE-Seq for Sensitive Off-Target Detection

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Solution Overview

Problem

Existing methods for identifying off-target genome editing sites in primary human cells, such as GUIDE-Seq, are limited by the cytotoxicity of double-stranded oligonucleotides and cannot account for patient-specific genomic variants, leading to unreliable detection of off-target effects.

Innovation Solution

A method involving the use of non-viral delivery of ribonucleoproteins (RNPs) complexed with TRAC or TRBC guide RNAs and a double-stranded oligonucleotide (dsODN) in primary human T cells, followed by unbiased amplification and sequencing to identify off-target effects.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If GUIDE-Seq method using double-stranded oligonucleotides is applied to primary human T cells, then off-target detection sensitivity is improved, but cell cytotoxicity increases and reliability deteriorates

Engineering Contradiction:
Improveoff-target detection sensitivityVSAvoidcell cytotoxicity
Core Design Contradiction:
Measurement precisionVSObject-affected harmful factors

Solution Approach 1:

The patent introduces a novel intermediary molecule: a single-stranded oligonucleotide with a 5' phosphate group that serves as a marker for double-strand breaks. This intermediary integrates into the DNA break sites and enables detection without requiring the cytotoxic double-stranded oligonucleotides used in traditional GUIDE-Seq, thus resolving the contradiction between detection sensitivity and cell cytotoxicity

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent changes the fundamental parameter of the oligonucleotide marker from double-stranded to single-stranded configuration. This parameter change eliminates the cytotoxicity issue while maintaining the ability to mark and detect double-strand break sites through subsequent PCR amplification and sequencing

Inventive Principle:
Principle #35Parameter changes

2Manufacturing precision

If computational simulations are used to identify off-target sites, then manufacturing precision is improved, but measurement precision deteriorates due to inability to detect in vitro off-target sites

Engineering Contradiction:
Improveprediction accuracyVSAvoidoff-target site identification reliability
Core Design Contradiction:
Manufacturing precisionVSMeasurement precision

Solution Approach 1:

The patent creates a molecular copy of the DNA break site through integration of the single-stranded oligonucleotide marker. This copy serves as a detectable proxy for the actual break site, enabling direct experimental measurement of off-target effects in vitro rather than relying on computational predictions, thus resolving the contradiction between prediction accuracy and measurement reliability

Inventive Principle:
Principle #26Copying

3Measurement precision

If existing GUIDE-Seq method is used, then off-target detection is improved, but adaptability deteriorates due to inability to account for patient-specific genomic variants

Engineering Contradiction:
Improveoff-target detection capabilityVSAvoidpatient-specific variant accommodation
Core Design Contradiction:
Measurement precisionVSAdaptability or versatility

Solution Approach 1:

The patent develops a universal detection system based on single-stranded oligonucleotide integration that works across different cell types and patient samples. The method universally detects double-strand breaks regardless of patient-specific genomic variants, enabling adaptable off-target screening in primary human cells with diverse genetic backgrounds

Inventive Principle:
Principle #6Universality (Multi-functionality)

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

Enables highly sensitive and accurate detection of off-target genome editing sites in primary human T cells, overcoming limitations of existing methods by providing patient-specific and unbiased identification of off-target cleavage.

Implementation Method 1

providing a nuclease composition capable of inducing a double-stranded break in the genomic DNA of a primary cell

Methodology Applied
Scientific EffectEnzymatic cleavage: Enzyme

Implementation Method 2

repairing the DSBs, and integrating a dsODN at one or more DSBs

Methodology Applied
Scientific EffectDNA repair: Enzyme

Implementation Method 3

integrating a dsODN at one or more DSBs

Methodology Applied
Scientific EffectNon-homologous end joining: Enzyme

Data Source

PatentEP3999651B1Methods of performing guide-SEQ on primary human t cells
Publication Date: 2026.03.18 ADOC SSF LLC
  • EP3999651B1 patent drawingFigure 1

AI summary

Disclosed herein are methods for identifying the effects, including off target effect, of genomic modification of primary cells. These methods are performed with high accuracy suitable for validating therapeutic T-cell engineering approaches.