Review of WISC-IV advanced clinical interpretation.

2007 ◽  
Vol 48 (1) ◽  
pp. 51-53
Author(s):  
Rebecca Pillai Riddell
Keyword(s):  
Clinical Interpretation

Evaluation of management strategy results of laboratory studies in serum samples with hemolysis

2019 ◽  
Vol 1 (4) ◽  
pp. 43-45
Author(s):  
O. A. Klimenkova ◽  
V. P. Pashkova ◽  
T. V. Vavilova ◽  
V. S. Berestovskaya
Keyword(s):  
Management Strategy ◽  
Negative Consequences ◽  
Laboratory Studies ◽  
Serum Samples ◽  
Ongoing Debate ◽  
Clinical Interpretation ◽  
Points Of View ◽  
Test Result ◽  
High Uncertainty

There is an ongoing debate about what the laboratory should do with hemolyzed samples. Several strategies are proposed for managing the results obtained in such samples. The safest option from the analytical and clinical points of view is to perform a study of a new sample without hemolysis. Another approach is to carry out a test irregardless, but at the same time indicate a limit on the clinical interpretation of the result, by making a comment on possible hemoglobin interference. The choice of strategy should be based on a comparison of the risk of negative consequences in the absence of a test result and the likelihood of harm due to the transfer of the result with high uncertainty to the clinician.

scholarly journals Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ege Ülgen ◽  
Özge Can ◽  
Kaya Bilguvar ◽  
Cemaliye Akyerli Boylu ◽  
Şirin Kılıçturgay Yüksel ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Analysis ◽  
Clinical Interpretation ◽  
Germline Variants ◽  
Whole Exome ◽  
Gene Level ◽  
Analysis Workflow ◽  
Tumor Mutational Burden ◽  
Diffuse Gliomas

Abstract Background In the clinical setting, workflows for analyzing individual genomics data should be both comprehensive and convenient for clinical interpretation. In an effort for comprehensiveness and practicality, we attempted to create a clinical individual whole exome sequencing (WES) analysis workflow, allowing identification of genomic alterations and presentation of neurooncologically-relevant findings. Methods The analysis workflow detects germline and somatic variants and presents: (1) germline variants, (2) somatic short variants, (3) tumor mutational burden (TMB), (4) microsatellite instability (MSI), (5) somatic copy number alterations (SCNA), (6) SCNA burden, (7) loss of heterozygosity, (8) genes with double-hit, (9) mutational signatures, and (10) pathway enrichment analyses. Using the workflow, 58 WES analyses from matched blood and tumor samples of 52 patients were analyzed: 47 primary and 11 recurrent diffuse gliomas. Results The median mean read depths were 199.88 for tumor and 110.955 for normal samples. For germline variants, a median of 22 (14–33) variants per patient was reported. There was a median of 6 (0–590) reported somatic short variants per tumor. A median of 19 (0–94) broad SCNAs and a median of 6 (0–12) gene-level SCNAs were reported per tumor. The gene with the most frequent somatic short variants was TP53 (41.38%). The most frequent chromosome-/arm-level SCNA events were chr7 amplification, chr22q loss, and chr10 loss. TMB in primary gliomas were significantly lower than in recurrent tumors (p = 0.002). MSI incidence was low (6.9%). Conclusions We demonstrate that WES can be practically and efficiently utilized for clinical analysis of individual brain tumors. The results display that NOTATES produces clinically relevant results in a concise but exhaustive manner.

scholarly journals Correction to: Will the Real Theoretical Structure of the WISC-V Please Stand Up? Implications for Clinical Interpretation

2021 ◽  
Author(s):  
Stefan C. Dombrowski ◽  
Ryan J. McGill ◽  
Marley W. Watkins ◽  
Gary L. Canivez ◽  
Alison E. Pritchard ◽  
...  
Keyword(s):  
Clinical Interpretation ◽  
The Real ◽  
Theoretical Structure
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