Using nanopore sequencing, we showed the feasibility and impact of rapid genomic screening for managing thrombotic microangiopathies in 18 prospective cases, achieving diagnoses in <3 days. We compared the results with standard exome sequencing, cost efficiency, and complement blockade initiation.
© 2024 American Society of Hematology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
SeqOne's DiagAI HPO automates extraction of HPO terms from clinical notes using AI, streamlining phenotype-driven genomic analysis with multi-language support.
Professor Anne-Sophie Lèbre of CHU de Reims uses SeqOne for rare disease and oncology genomics, enabling rapid, precise variant interpretation.
Here, 30 well-characterized clinical germline samples were studied with adaptive sampling to enrich the full sequence of 152 cancer predisposition genes. Sequencing was performed on Oxford Nanopore (ONT) R10.4.1 MinION flowcells with the Q20+ chemistry.
DiagAI uses inheritance & quality rules based on real diagnostic data, enabling clinicians to understand AI recommendations and collaborate on system improvement.
SeqOne Platform gets IVDR Class C medical device certification for NGS analysis in oncology and rare diseases, validating quality and safety.
APHM and SeqOne partner to automate exome sequencing with AI, processing up to 2,000 rare disease samples yearly for better diagnostics.
SeqOne launches DiagAI Score, a 0-100 metric for ranking genetic variants' disease-causing potential, combining AI power with human expertise for faster diagnosis.
Solving the structure of mRNA transcripts is a major challenge for both research and molecular diagnostic purposes. Current approaches based on short-read RNA sequencing and RT-PCR techniques cannot fully explore the complexity of transcript structure.
SeqOne’s HRD platform enables North West GLH to conduct in-house genomic instability testing for ovarian cancer.
MGI and SeqOne partner to develop genomic analysis solutions, combining MGI's sequencing tech with SeqOne's AI-powered platform.
SeqOne Cloud now supports Agilent CGH MicroArrays, offering AI-powered CNV annotation, ACMG classification, and seamless Cartagenia migration.
GenomeAlert! reevaluates genetic variant classifications monthly against ClinVar to ensure accurate patient diagnoses and treatment.
A new partnership delivers end-to-end genome nanopore sequencing solutions for clinical applications in rare disease and oncology.
The PAOLA-1/ENGOT-ov25 trial showed that maintenance olaparib plus bevacizumab increases survival of advanced ovarian cancer patients with homologous recombination deficiency (HRD).
Martin Dubuc appointed as SeqOne Genomics CEO, Nicolas Philippe becomes President & CPSO to drive global clinical genomics expansion.
SeqOne launches HRD test for ovarian cancer patients, validated with PAOLA-1 cohort. Clinical validation shows comparable survival benefits to Myriad myChoice® CDx.
Despite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagnostic yield of 10%–20%.
This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021.
Poly(ADP-ribose) polymerase 1 inhibitor (PARPi) agents can improve progression-free survival of patients with breast cancer who carry a germline BRCA1 or BRCA2 pathogenic or likely pathogenic variant (gBRCA) in both the metastatic and adjuvant setting.
Retrospective interpretation of sequenced data in light of the current literature is a major concern of the field. Such reinterpretation is manual and both human resources and variable operating procedures are the main bottlenecks.
The huge body of publicly available RNA-sequencing (RNA-seq) libraries is a treasure of functional information allowing to quantify the expression of known or novel transcripts in tissues.
Osteoarthritis (OA) is the most common joint disease worldwide. The etiology of OA is varied, ranging from multifactorial to environmental to monogenic.
We introduce a k-mer-based computational protocol, DE-kupl, for capturing local RNA variation in a set of RNA-seq libraries, independently of a reference gen...
The evolution of next-generation sequencing (NGS) technologies has led to increased focus on RNA-Seq. Many bioinformatic tools have been developed for RNA-Seq analysis, each with unique performance characteristics and configuration parameters.
