FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4310019404> ?p ?o ?g. }

• W4310019404 endingPage "36" @default.
• W4310019404 startingPage "36" @default.
• W4310019404 abstract "Hematological neoplasms are predominantly defined by chromosomal aberrations that includes structural variants (SVs) and copy number variations (CNVs). The current standard-of-care (SOC) methods [karyotyping, fluorescence in-situ hybridization (FISH), and chromosomal microarrays (CMA)] employed for the detection of SVs and CNVs are labor intensive, time and cost-prohibitive, and often does not reveal the genetic complexity of the tumor. Optical genome mapping (OGM) is an emerging technology that can detect all classes of SVs in a single assay. We report the results from our clinical validation (in a CLIA setting) of the OGM technique for hematological neoplasms. The study included 94 sample runs (including replicates) using 71 well characterized unique samples (61 hematological neoplasms and 10 controls). The analytical performance showed a sensitivity of 98.7%, specificity of 100%, accuracy of 98.7%, PPV of 100% and NPV of 98%, that included the detection of 61 aneuploidies, 35 deletions, 28 translocations, 11 duplications/amplifications, 15 insertions/additional material not identified with karyotyping, 12 marker chromosomes, 1 each of ring chromosome, inversion and isochromosome. OGM showed high (robust) technical and analytical reproducibility with a limit of detection of 5% allele fraction for the variant classes evaluated in the study. In addition, OGM demonstrated higher resolution to refine breakpoints, identify the additional material, marker and ring chromosomes. This first CLIA validation report demonstrates the technical and analytical advantages of OGM compared to the current SOC methods used for chromosomal characterization, and we recommend OGM as a potential first-tier cytogenetic test for the evaluation of hematological neoplasms. Hematological neoplasms are predominantly defined by chromosomal aberrations that includes structural variants (SVs) and copy number variations (CNVs). The current standard-of-care (SOC) methods [karyotyping, fluorescence in-situ hybridization (FISH), and chromosomal microarrays (CMA)] employed for the detection of SVs and CNVs are labor intensive, time and cost-prohibitive, and often does not reveal the genetic complexity of the tumor. Optical genome mapping (OGM) is an emerging technology that can detect all classes of SVs in a single assay. We report the results from our clinical validation (in a CLIA setting) of the OGM technique for hematological neoplasms. The study included 94 sample runs (including replicates) using 71 well characterized unique samples (61 hematological neoplasms and 10 controls). The analytical performance showed a sensitivity of 98.7%, specificity of 100%, accuracy of 98.7%, PPV of 100% and NPV of 98%, that included the detection of 61 aneuploidies, 35 deletions, 28 translocations, 11 duplications/amplifications, 15 insertions/additional material not identified with karyotyping, 12 marker chromosomes, 1 each of ring chromosome, inversion and isochromosome. OGM showed high (robust) technical and analytical reproducibility with a limit of detection of 5% allele fraction for the variant classes evaluated in the study. In addition, OGM demonstrated higher resolution to refine breakpoints, identify the additional material, marker and ring chromosomes. This first CLIA validation report demonstrates the technical and analytical advantages of OGM compared to the current SOC methods used for chromosomal characterization, and we recommend OGM as a potential first-tier cytogenetic test for the evaluation of hematological neoplasms." @default.
• W4310019404 created "2022-11-30" @default.
• W4310019404 creator A5014111706 @default.
• W4310019404 creator A5014444340 @default.
• W4310019404 creator A5014551662 @default.
• W4310019404 creator A5014646117 @default.
• W4310019404 creator A5035050423 @default.
• W4310019404 creator A5039582413 @default.
• W4310019404 creator A5046760570 @default.
• W4310019404 creator A5046762273 @default.
• W4310019404 creator A5049405252 @default.
• W4310019404 creator A5066952732 @default.
• W4310019404 date "2022-11-01" @default.
• W4310019404 modified "2023-09-27" @default.
• W4310019404 title "113. Optical Genome Mapping: Clinical validation and diagnostic utility for cytogenomic analysis of Hematological Neoplasms" @default.
• W4310019404 doi "https://doi.org/10.1016/j.cancergen.2022.10.116" @default.
• W4310019404 hasPublicationYear "2022" @default.
• W4310019404 type Work @default.
• W4310019404 citedByCount "0" @default.
• W4310019404 crossrefType "journal-article" @default.
• W4310019404 hasAuthorship W4310019404A5014111706 @default.
• W4310019404 hasAuthorship W4310019404A5014444340 @default.
• W4310019404 hasAuthorship W4310019404A5014551662 @default.
• W4310019404 hasAuthorship W4310019404A5014646117 @default.
• W4310019404 hasAuthorship W4310019404A5035050423 @default.
• W4310019404 hasAuthorship W4310019404A5039582413 @default.
• W4310019404 hasAuthorship W4310019404A5046760570 @default.
• W4310019404 hasAuthorship W4310019404A5046762273 @default.
• W4310019404 hasAuthorship W4310019404A5049405252 @default.
• W4310019404 hasAuthorship W4310019404A5066952732 @default.
• W4310019404 hasConcept C104317684 @default.
• W4310019404 hasConcept C120821319 @default.
• W4310019404 hasConcept C124942203 @default.
• W4310019404 hasConcept C141231307 @default.
• W4310019404 hasConcept C206936463 @default.
• W4310019404 hasConcept C2777542201 @default.
• W4310019404 hasConcept C30481170 @default.
• W4310019404 hasConcept C53226629 @default.
• W4310019404 hasConcept C54355233 @default.
• W4310019404 hasConcept C57269778 @default.
• W4310019404 hasConcept C70721500 @default.
• W4310019404 hasConcept C86803240 @default.
• W4310019404 hasConceptScore W4310019404C104317684 @default.
• W4310019404 hasConceptScore W4310019404C120821319 @default.
• W4310019404 hasConceptScore W4310019404C124942203 @default.
• W4310019404 hasConceptScore W4310019404C141231307 @default.
• W4310019404 hasConceptScore W4310019404C206936463 @default.
• W4310019404 hasConceptScore W4310019404C2777542201 @default.
• W4310019404 hasConceptScore W4310019404C30481170 @default.
• W4310019404 hasConceptScore W4310019404C53226629 @default.
• W4310019404 hasConceptScore W4310019404C54355233 @default.
• W4310019404 hasConceptScore W4310019404C57269778 @default.
• W4310019404 hasConceptScore W4310019404C70721500 @default.
• W4310019404 hasConceptScore W4310019404C86803240 @default.
• W4310019404 hasLocation W43100194041 @default.
• W4310019404 hasOpenAccess W4310019404 @default.
• W4310019404 hasPrimaryLocation W43100194041 @default.
• W4310019404 hasRelatedWork W1975039090 @default.
• W4310019404 hasRelatedWork W2003580043 @default.
• W4310019404 hasRelatedWork W2016471266 @default.
• W4310019404 hasRelatedWork W2030670272 @default.
• W4310019404 hasRelatedWork W2054040680 @default.
• W4310019404 hasRelatedWork W2076781758 @default.
• W4310019404 hasRelatedWork W2086455331 @default.
• W4310019404 hasRelatedWork W2148953262 @default.
• W4310019404 hasRelatedWork W2753133924 @default.
• W4310019404 hasRelatedWork W3030075868 @default.
• W4310019404 hasVolume "268-269" @default.
• W4310019404 isParatext "false" @default.
• W4310019404 isRetracted "false" @default.
• W4310019404 workType "article" @default.