Platform features

May 7, 2025

SeqOne Launches SomaHemato: Advancing Precision in CLL Prognostics with Robust IGHV Mutational Status Analysis on the SeqOne Platform

SeqOne's SomaHemato offers robust, validated IGHV analysis for CLL prognosis, overcoming NGS short-read limits for precise clinical insights.

News

Apr 7, 2025

SeqOne Accelerates Growth and Expansion into Multi-Omics with Life & Soft Acquisition

Strategic acquisition bolsters SeqOne's multi-omics capabilities and expands service offerings with ISO-certified sequen...

Platform features

Feb 10, 2025

Next-Generation Phenotype-Driven Genomic Analysis with SeqOne

SeqOne's DiagAI HPO automates extraction of HPO terms from clinical notes using AI, streamlining phenotype-driven genomi...

Testimonial

Dec 5, 2024

Transforming Patient Care: SeqOne Empowers CHU de Reims with Advanced Genomic Analysis

Professor Anne-Sophie Lèbre of CHU de Reims uses SeqOne for rare disease and oncology genomics, enabling rapid, precise ...

Science

Dec 5, 2024

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition

Here, 30 well-characterized clinical germline samples were studied with adaptive sampling to enrich the full sequence o...

Platform features

Nov 18, 2024

SeqOne’s DiagAI Score Brings Transparency to Genomic Variant Ranking: Unveiling the AI Decision Process with xAI

DiagAI uses inheritance & quality rules based on real diagnostic data, enabling clinicians to understand AI recommendati...

News

Nov 14, 2024

SeqOne Platform Achieves IVDR Certification, Setting New Quality Standards for Clinical Genomic Analysis

SeqOne Platform gets IVDR Class C medical device certification for NGS analysis in oncology and rare diseases, validatin...

Case study

Oct 14, 2024

Precision Medicine at Scale: AP-HM’s Automated Exome Analysis Success Story

APHM and SeqOne partner to automate exome sequencing with AI, processing up to 2,000 rare disease samples yearly for bet...

Platform features

Oct 9, 2024

SeqOne Unveils DiagAI Score: Explainable AI-Powered Variant Ranking

SeqOne launches DiagAI Score, a 0-100 metric for ranking genetic variants' disease-causing potential, combining AI power...

Science

Sep 30, 2024

Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipeline

Solving the structure of mRNA transcripts is a major challenge for both research and molecular diagnostic purposes. Curr...

Case study

Sep 9, 2024

Case Study: North West GLH Validation and Implementation of In-House HRD testing with SeqOne’s SomaHRD

SeqOne’s HRD platform enables North West GLH to conduct in-house genomic instability testing for ovarian cancer.

News

Jun 17, 2024

MGI Tech and SeqOne Partner to Advance End-to-End Genomic Analysis

MGI and SeqOne partner to develop genomic analysis solutions, combining MGI's sequencing tech with SeqOne's AI-powered p...

Platform features

Jun 17, 2024

Introducing SeqOne CGH Array Interpretation

SeqOne Cloud now supports Agilent CGH MicroArrays, offering AI-powered CNV annotation, ACMG classification, and seamless...

Platform features

Apr 19, 2024

SeqOne GenomeAlert! A variant reevaluation automation agent to improve patient care

GenomeAlert! reevaluates genetic variant classifications monthly against ClinVar to ensure accurate patient diagnoses an...

News

Mar 11, 2024

Oxford Nanopore Technologies and SeqOne Partner to Support Interpretation of Nanopore Sequencing in Clinical Use

A new partnership delivers end-to-end genome nanopore sequencing solutions for clinical applications in rare disease and...

Science

Mar 1, 2024

Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer

The PAOLA-1/ENGOT-ov25 trial showed that maintenance olaparib plus bevacizumab increases survival of advanced ovarian ca...

News

Jan 30, 2024

SeqOne Genomics appoints Martin Dubuc as Chief Executive Officer

Martin Dubuc appointed as SeqOne Genomics CEO, Nicolas Philippe becomes President & CPSO to drive global clinical genomi...

Platform features

Feb 22, 2023

SeqOne's Clinically Validated HRD Test Enhances Precision in Ovarian Cancer Treatment

SeqOne launches HRD test for ovarian cancer patients, validated with PAOLA-1 cohort. Clinical validation shows comparabl...

Science

Nov 21, 2022

Genomic analysis of adult thrombotic microangiopathies in less than 3 days: from rapid to fast genomics to treatment

Using nanopore sequencing, we showed the feasibility and impact of rapid genomic screening for managing thrombotic micro...

Science

Sep 22, 2022

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the firs...

Science

Jun 22, 2022

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective

This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions ...

Science

Jun 4, 2022

Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation

Poly(ADP-ribose) polymerase 1 inhibitor (PARPi) agents can improve progression-free survival of patients with breast can...

Science

Mar 17, 2022

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine

Retrospective interpretation of sequenced data in light of the current literature is a major concern of the field. Such ...

Science

Jun 23, 2021

Kmerator Suite: design of specific k-mer signatures and automatic metadata discovery in large RNA-seq datasets

The huge body of publicly available RNA-sequencing (RNA-seq) libraries is a treasure of functional information allowing ...

Science

Sep 26, 2020

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis

Osteoarthritis (OA) is the most common joint disease worldwide. The etiology of OA is varied, ranging from multifactoria...

Science

Dec 28, 2017

DE-kupl: exhaustive capture of biological variation in RNA-seq data through k-mer decomposition

We introduce a k-mer-based computational protocol, DE-kupl, for capturing local RNA variation in a set of RNA-seq librar...

Science

Sep 29, 2017

SimBA: A methodology and tools for evaluating the performance of RNA-Seq bioinformatic pipelines

The evolution of next-generation sequencing (NGS) technologies has led to increased focus on RNA-Seq. Many bioinformatic...

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