№ files_lp_4_process_1_39509
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NGS-based clinical study detailing mutational profiles of TRMN patients with visualizations of comutation patterns and survival analyses stratified by disease type, classification, and treatment.
Year: 2026
Institution: Gustave Roussy Cancer Center
Region: France
Study type: Clinical genomic study
Target population: Patients with therapy-related myeloid neoplasms (TRMN) following breast or gynecologic cancers
Sample size: 77 patients
Methodology: Targeted NGS panel of 74 genes
Data type: Mutation profiles, comutation plots, survival analyses
Classification systems: ELN 2017 for AML, IPSS for MDS
Follow-up: Overall survival according to malignancy type, mutations, and treatment received
Figures and tables: Comutation plot, OS plots, mutation frequency tables
Price: 8 / 10 USD
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Malignant Hyperthermia Susceptibility NGS Panel (3 genes)
Year: 2014
Region / City: Seattle
Topic: Medical Genetics
Document Type: Clinical Guidelines
Organization / Institution: University of Washington
Author: Schneiderbanger D, Johannsen S, Roewer N, Schuster F
Target Audience: Healthcare professionals, Anesthesiologists
Period of Validity: Not specified
Date of Approval: 2014
Date of Changes: Not specified
Supplementary Information for Calibration-free NGS Quantitation of Mutations below 0.01% VAF
Year: 2026
Institution: Rice University, MD Anderson Cancer Center, NuProbe USA
Department: Bioengineering; Systems, Synthetic, and Physical Biology; Leukemia; Translational Molecular Pathology
Authors: Peng Dai, Lucia Ruojia Wu, Sherry Xi Chen, Michael Xiangjiang Wang, Lauren Yuxuan Cheng, Jinny Xuemeng Zhang, Christina Pengying Hao, Weijie Yao, Jabra Zarka, Ghayas C. Issa, Lawrence Kwong, David Yu Zhang
Type: Supplementary Material
Subject: NGS quantitation, mutation detection, QBDA method, leukemia and tuberculosis panels
Target Audience: Researchers in genomics and molecular diagnostics
Techniques: Single-plex and multiplex QBDA, spike-in reference standards, LoD determination, sequencing depth analysis
Reference Standards: Myeloid DNA Reference Standard, NA18562 genomic DNA, synthetic gBlocks
Mutation Frequency Range: 0.01%–70% VAF
Data: Primer sequences and SNP/mutation panels provided in supplementary tables and spreadsheet files
NGS Project Consultation Form for Research Project Submission and Core Facility Review
Document type: Research project consultation form
Research field: Genomics / Next-Generation Sequencing
Purpose: Collection of project information for NGS sequencing and analysis planning
Sections: Researcher section; NGS Core facility section
Information requested from researcher: Project title; Reference number or research network affiliation; Applicant institution contact; Research field; Project summary; NGS applications; Sample type and number; Sample delivery schedule; Bioinformatics support requirements
Information completed by facility: Internal project ID; Library preparation protocols; Sample input limitations; Sequencer platform; Data output per sample; Study design with controls or replicates; Comments on experimental design; Comments on experiments; Library preparation costs; Sequencing costs; Data analysis comments
Organizations involved: Applicant research institution; NGS Core facility
Related technologies: Next-Generation Sequencing (NGS); RNA sequencing; ATAC sequencing; single-cell RNA sequencing
Sample types mentioned: Cells; Chromatin; DNA; RNA
Administrative fields: Date of consultation; Applicant signature; NGS Core signature
Topics: TRMN mutational NGS