{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Cancer Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001006222"],"host":["EGA"],"description":["EGA study EGAS00001006222"],"dataset_title":["Myeloma Genome Project Targeted Sequencing Panel - Oxford Data"],"repository":["EGA"],"category":["restricted"],"description_synonyms":["Antemortem Diagnosis, Materials, l(3)LG9, determination, Cell Myelomas, Sry-rDM33, Sry-rDM36, Mini Exon, Measure, congenital defects, Myeloma-Multiples, Diagnosis, Myeloma-Multiple, aplasia, Cost-Minimization, Mutations, Relative, C230050L11, TSK5, symptoms, Sry-rDM23, In Situ, Polymerase Chain, Analysis, Cost Comparison, in situ hybridization, Gm5098, systemic, treatment, amyloidosis, bony fishes, DM10, Analyses, Cost-Minimization Analyses, hypoplasia, myeloma, Inverse Polymerase Chain Reaction, Comparison, Fish, ISH, Sry-rDM10, Cost Analysis, Cell Myeloma, no ICD-O subtype (morphologic abnormality), scientific observation, Reaction, Therapies, Comparisons, fish, FISH, Affordabilities, Plasma Cell, Reference Standard, Sox70D, Diagnose, Plasma-Cell Myelomas, Therapy, screening, Standard Preparation, Standard Preparations, Anchored Polymerase Chain Reaction, Standardization, Myelomas, DM33, Hybridization, Myeloma, DM36, Genome Sequencing, Hybridizations, deformities, Multiple Myeloma, Diagnoses, Kahler, Complete Genome, Postmortem, Screenings, ray-finned fishes, DM23, Cephalaspidomorphi, Examinations and Diagnoses, Relative Risks, Genetic Materials, NOS, Ligature, AI413738, Postmortem Diagnosis, morphology (morphologic abnormality), Genetic Material, finances, Plasma-Cell Myeloma, Sry-rDM63, PCR, atresia, Diagnoses and Examination, Postmortem Diagnoses, Monorhina, Risk, Standard, Nested Polymerase Chain Reaction, malformations, salaries, signs, common, Treatments, TKS5, Tks5, polymerase chain reaction, LMA, Multiple, multiple, Patient, Material, anomalies, Cistron, Multiple myeloma (clinical), financial management, Cost Analyses, SOXB2.1, criteria, Multiple myeloma (disorder), fishes, Kahler's disease, 2310014D11Rik, number, Gene, Polymerase Chain Reactions, Cost Comparisons, guidelines, Inverse, Multiplex ligation-dependent probe amplification, presence, Agnatha, loD, Multiple Myelomas, AA589508, Inverse PCR, DM63, Sh3md1, Cost Minimization Analysis, [M]Plasma cell myeloma, Mini-Exon, Myelomatoses, Mass, Screening, defects, CG5893, Antemortem, Plasmacytic myeloma, Complete, Multiple myeloma, Whole Genome, Genetic, Cost Measures, Affordability, Plasma Cell Myelomas, Complete Genome Sequencing, Measures, Hybridization in Situ, financing, Diagnoses and Examinations, EG329070, Sequencing, Ligations, funding, Reference, Clients, Whole, In Situ Hybridizations, Anchored PCR, Preparation, myeloma - multiple, Plasma-cell myeloma, measuring, DmelCG5893, WGS, fees, Antemortem Diagnoses, Disease, AI256723, Sox B2-1, findings, SH3MD1, Sox70, Myeloma Multiple, Cistrons, Client, Examination and Diagnoses, MM, Al amyloidosis, Actinopterygi, multiple myeloma, count in organism, disease management., SOX70D, Mass Screenings, agenesis, chemical analysis, Myelomatosis, MULT MYELM W/O REMISSION, Plasma-Cell, SOXDP, Relative Risk, Costs and Cost Analyses, Plasma, Hyperotreti, Costs, Anchored, Ligatures, Reactions, Nested, Mini-Exons, Cost, Risks, Exon, Cost-Minimization Analysis, Kahler Disease, patient, Pricing, Multiple myeloma without mention of remission, Osteichthyes, SOX70, cost, Preparations, no ICD-O subtype, Plasma Cell Myeloma, Therapeutic, birth defects, Standards, cardinality, Nested PCR, Treatment, MLPA, assay, Cost Measure"],"name_synonyms":["Plasma-Cell Myelomas, Plasma-cell myeloma, Disease, Genomics, Myelomas, Myeloma, Multiple myeloma (disorder), Comparative, Kahler's disease, Cell Myelomas, Magpie, Myeloma Multiple, F21M11.25, Functional Genomics, Myeloma-Multiples, Myeloma-Multiple, Multiple Myeloma, MM, Al amyloidosis, multiple myeloma, Kahler, Multiple Myelomas, Structural, Client., F21M11_25, [M]Plasma cell myeloma, Functional, Myelomatoses, NOS, Myelomatosis, MULT MYELM W/O REMISSION, morphology (morphologic abnormality), Plasma-Cell, Plasma-Cell Myeloma, Plasmacytic myeloma, systemic, Plasma, amyloidosis, Multiple myeloma, Comparative Genomics, Plasma Cell Myelomas, myeloma, Kahler Disease, Multiple myeloma without mention of remission, Multiple, no ICD-O subtype, Cell Myeloma, multiple, Plasma Cell Myeloma, Patient, no ICD-O subtype (morphologic abnormality), Clients, Structural Genomics, Multiple myeloma (clinical), Plasma Cell, myeloma - multiple"],"additional_accession":[]},"is_claimable":false,"name":"MGP Panel: a comprehensive targeted genomics panel for molecular profiling of multiple myeloma patients","description":"We designed a comprehensive multiple myeloma (MM) targeted sequencing panel to identify common genomic abnormalities in a single assay and validated it against known standards. The panel comprised 228 genes/exons for mutations, 6 regions for translocations, and 56 regions for copy number abnormalities (CNAs). Toward panel validation, targeted sequencing was conducted on 233 patient samples and further validated using clinical fluorescence in situ hybridization (FISH) (translocations), multiplex ligation probe analysis (MLPA) (CNAs), whole genome sequencing (WGS) (CNAs, mutations, translocations) or droplet digital PCR (ddPCR) of known standards (mutations). Canonical IgH translocations were detected in 43.2% of patients by sequencing, and aligned with FISH except for one patient. CNAs determined by sequencing and MLPA for 22 regions were comparable in 103 samples and concordance between platforms was R2=0.969. VAFs for 74 mutations were compared between sequencing and ddPCR with concordance of R2=0.9849. In summary, we have developed a targeted sequencing panel that is as robust or superior to FISH and WGS. This molecular panel is cost effective, comprehensive, clinically actionable and can be routinely deployed to assist risk stratification at diagnosis or post-treatment to guide sequencing of therapies.","dates":{"updated":"2023-02-03 10:24:29"},"accession":"EGAS00001006222","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001008735","EGAC00001002654"]}}