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Discordancy tests
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Clinical genomic testing is dependent on the robust identification and reporting of variant-level information in relation to disease. With the shift to high-throughput sequencing, a major challenge for clinical diagnostics is the cross-identification of variants called on their genomic position to resources that rely on transcript- or protein-based descriptions.
14p
vioraclene
31-03-2024
5
2
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Polyagglutinability of red blood cells is a rare immunological phenomenon, it is due to a cryptic antigen that is abnormally present on the surface of red blood cells. The aim of our work is to shed light on polyagglutinability, which is still poorly understood cause of discordance between the cell and serum tests and can sometimes have harmful transfusion consequences.
7p
vitiki
30-01-2024
3
2
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Lymphocytic neoplasms with frequent reactive lymphocytes are uncommonly reported in dogs, and can pose a diagnostic challenge. Different diagnostic modalities such as cytology, flow cytometry, histopathology, immunohistochemistry, and clonality testing, are sometimes required for a diagnosis.
9p
vidarwin
23-02-2022
12
1
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Genotypes generated in next generation sequencing studies contain errors which can significantly impact the power to detect signals in common and rare variant association tests. These genotyping errors are not explicitly filtered by the standard GATK Variant Quality Score Recalibration (VQSR) tool and thus remain a source of errors in whole exome sequencing (WES) projects that follow GATK’s recommended best practices.
15p
vikentucky2711
26-11-2020
7
0
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A computationally efficient tool is required for a genome-wide gene-gene interaction analysis that tests an extremely large number of single-nucleotide polymorphism (SNP) interaction pairs in genome-wide association studies (GWAS).
8p
vioklahoma2711
19-11-2020
7
1
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Community acquired pneumonia is an infection of pulmonary parenchyma. Despite of advancements in antimicrobial therapy, it stills remains a major threat with significant mortality and morbidity. It accounts for about 13-18% of all nosocomial infections. To identify microbial etiology of cases of Community acquired pneumonia, perform antibiotic susceptibility of the isolates & compare the anti-microbial resistance pattern with special reference to Streptococcus pneumoniae. The study was carried out at SRM Medical College Hospital & Research Centre from February 2012 to February 2013.
9p
cothumenhmong1
08-12-2019
22
0
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In order to establish the best statistical procedure for estimating improved compositional data in geochemical reference materials for quality control purposes, we evaluated the test performance criterion (πD|C) and swamping (πswamp) and masking (πmask) effects of 30 conventional and 32 new discordancy tests for normal distributions from central tendency slippage δ = 2–10, number of contaminants E = 1–4, and sample sizes n = 10, 20, 30, 40, 60, and 80.
23p
viminotaur2711
30-10-2019
25
2
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