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Diagnostic yield
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International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield.
18p
vibransone
28-03-2024
2
2
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Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7 years after initial analysis.
8p
vibransone
28-03-2024
3
2
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The aim of this study was to examine the diagnostic yield of microarray testing and the functional impact of genome-wide rare CNVs in a community ascertained cohort of adults with schizophrenia and low (< 85) or average (≥ 85) IQ.
13p
vioraclene
31-03-2024
3
1
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Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinical interpretation of non-canonical splicing variants offer a major opportunity to uplift diagnostic yields from whole genome sequencing data.
11p
viellison
28-03-2024
2
2
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Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated.
13p
viellison
28-03-2024
4
2
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Population screening for genetic risk of adult-onset preventable conditions has been proposed as an attractive public health intervention. Screening unselected individuals can identify many individuals who will not be identified through current genetic testing guidelines.
12p
vicwell
29-02-2024
2
1
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Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management plans.
12p
vicwell
29-02-2024
6
1
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Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients.
19p
vicwell
29-02-2024
6
2
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Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disap‑ pointingly low, at 25–30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome.
25p
vicwell
29-02-2024
3
1
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The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with the highest likelihood of having a monogenic disease.
14p
vicwell
29-02-2024
4
1
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Ventricular septal defect (VSD) is the commonest type of congenital heart lesion accounting for up to 40% of congenital heart defects. Well timed VSD closures are reported to yield excellent long-term outcomes. Late surgical VSD closures, particularly from the developing countries, are infrequently reported.
5p
vitiki
30-01-2024
4
2
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Several studies have compared the diagnostic value of sputum induction (SI) with flexible fiberoptic bronchoscopy (FOB) in diagnosing pulmonary tuberculosis; however, these investigations yield an inconsistent conclusion. This study aims to evaluate the role of acid-fast bacilli (AFB) testing of SI and bronchoalveolar lavage (BAL) samples in suspected pulmonary tuberculosis cases.
7p
vikissinger
21-12-2023
2
2
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The increased adoption of clinical whole exome sequencing (WES) has improved the diagnostic yield for patients with complex genetic conditions. However, the informatics practice for handling information contained in whole exome reports is still in its infancy, as evidenced by the lack of a common vocabulary within clinical sequencing reports generated across genetic laboratories.
8p
visteverogers
24-06-2023
7
2
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The study sought to characterize the evaluation of patients who present following detection of an abnormal pulse using Apple Watch. Materials and Methods: We conducted a retrospective review of patients evaluated for abnormal pulse detected using Apple Watch over a 4-month period.
5p
vighostrider
25-05-2023
7
2
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Monoclonal antibodies (mAb) are used as therapeutics and for diagnostics of a variety of diseases, and novel antibodies are continuously being developed to find treatments for new diseases. Therefore, the manufacturing process must accommodate a range of mAb characteristics. Acid-sensitive mAbs can severely compromise product purity and yield in the purification process due to the potential formation of aggregates.
8p
viginny
23-12-2022
12
3
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Heading time is one of the most important agronomic traits in wheat, as it largely affects both adaptation to different agro-ecological conditions and yield potential. Identification of genes underlying the regulation of wheat heading and the development of diagnostic markers could facilitate our understanding of genetic control of this process.
15p
vijichea2711
28-05-2021
10
1
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The diagnostic yields and safety profiles of transbronchial lung biopsy have not been evaluated in inexperienced physicians using the combined modality of radial probe endobronchial ultrasound and a guide sheath (EBUS-GS).
8p
vimontana2711
05-04-2021
12
2
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The optimal procedure for maximizing the diagnostic yield and minimizing the procedural complexity of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is controversial.
7p
vimontana2711
05-04-2021
11
2
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Standardization of trans-bronchial lung cryobiopsy in diffuse parenchymal lung diseases is imminent; however, the majority of published series on cryobiopsy include a limited number of patients and are characterized by several differences in procedural technical details.
10p
vimontana2711
05-04-2021
9
2
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Bronchoscopy plays a key role to diagnose the etiology, to localize the site, and to identify the sources of the bleeding in patients with hemoptysis, but the ideal timing of an endoscopic examination is still unclear.
6p
vimontana2711
05-04-2021
13
3
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