| 11. |
- Olson, Nathan D., et al.
(author)
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PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
- 2022
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In: Cell Genomics. - : Elsevier BV. - 2666-979X. ; 2:5, s. 1-12
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Journal article (peer-reviewed)abstract
- The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 variant call sets for one or more sequencing technologies (Illumina, PacBio HiFi, and Oxford Nanopore Technologies). Submissions were evaluated following best practices for benchmarking small variants with updated Genome in a Bottle benchmark sets and genome stratifications. Challenge submissions included numerous innovative methods, with graph-based and machine learning methods scoring best for short-read and long-read datasets, respectively. With machine learning approaches, combining multiple sequencing technologies performed particularly well. Recent developments in sequencing and variant calling have enabled benchmarking variants in challenging genomic regions, paving the way for the identification of previously unknown clinically relevant variants.
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| 12. |
- Pham, James P., et al.
(author)
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Full-body skin examination in screening for cutaneous malignancy: A focus on concealed sites and the practices of international dermatologists
- 2024
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In: JEADV CLINICAL PRACTICE. - 2768-6566. ; 3:4, s. 1132-1139
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Journal article (peer-reviewed)abstract
- BackgroundFull-body skin examination (FSE) is fundamental to the diagnosis of cutaneous malignancy but may not always include concealed site examination (CSE).ObjectivesTo determine the approach of international dermatologists to CSE during FSE and examine influencing factors, barriers and attitudes toward CSE.MethodsMembers of the International Dermoscopy Society were surveyed using an online 12-question survey disseminated via email.ResultsThere were 706 completed responses among 1249 unique clicks to the survey, representing a completion rate of 56.5%. Fifty-four percent of respondents reported always examining the breasts, while 52.8%, 18.8%, and 11.8% always examined the scalp, oral, and anogenital mucosa, respectively. The most frequent reason for examining concealed sites was patient concern, whilst common reasons for not examining concealed sites included low incidence of pathology and concern regarding allegations of sexual misconduct.ConclusionsOur findings allude to the need for international consensus guidelines regarding the conduct and inclusion of concealed or sensitive sites in routine FSE. This is essential to define clinician responsibilities, inform patient expectations of care, and thereby mitigate potential medicolegal repercussions.
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| 13. |
- Sinz, Christoph, et al.
(author)
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Accuracy of dermatoscopy for the diagnosis of nonpigmented cancers of the skin.
- 2017
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In: Journal of the American Academy of Dermatology. - : Elsevier BV. - 1097-6787 .- 0190-9622. ; 77:6, s. 1100-1109
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Journal article (peer-reviewed)abstract
- Nonpigmented skin cancer is common, and diagnosis with the unaided eye is error prone.To investigate whether dermatoscopy improves the diagnostic accuracy for nonpigmented (amelanotic) cutaneous neoplasms.We collected a sample of 2072 benign and malignant neoplastic lesions and inflammatory conditions and presented close-up images taken with and without dermatoscopy to 95 examiners with different levels of experience.The area under the curve was significantly higher with than without dermatoscopy (0.68 vs 0.64, P<.001). Among 51 possible diagnoses, the correct diagnosis was selected in 33.1% of cases with and 26.4% of cases without dermatoscopy (P<.001). For experts, the frequencies of correct specific diagnoses of a malignant lesion improved from 40.2% without to 51.3% with dermatoscopy. For all malignant neoplasms combined, the frequencies of appropriate management strategies increased from 78.1% without to 82.5% with dermatoscopy.The study deviated from a real-life clinical setting and was potentially affected by verification and selection bias.Dermatoscopy improves the diagnosis and management of nonpigmented skin cancer and should be used as an adjunct to examination with the unaided eye.
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| 14. |
- Tiodorovic, Danica, et al.
(author)
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Dermatoscopic patterns of cutaneous metastases: A multicentre cross-sectional study of the International Dermoscopy Society
- 2024
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In: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. - 0926-9959 .- 1468-3083. ; 38:7, s. 1432-1438
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Journal article (peer-reviewed)abstract
- BackgroundThe detection of cutaneous metastases (CMs) from various primary tumours represents a diagnostic challenge.ObjectivesOur aim was to evaluate the general characteristics and dermatoscopic features of CMs from different primary tumours.MethodsRetrospective, multicentre, descriptive, cross-sectional study of biopsy-proven CMs.ResultsWe included 583 patients (247 females, median age: 64 years, 25%-75% percentiles: 54-74 years) with 632 CMs, of which 52.2% (n = 330) were local, and 26.7% (n = 169) were distant. The most common primary tumours were melanomas (n = 474) and breast cancer (n = 59). Most non-melanoma CMs were non-pigmented (n = 151, 95.6%). Of 169 distant metastases, 54 (32.0%) appeared on the head and neck region. On dermatoscopy, pigmented melanoma metastases were frequently structureless blue (63.6%, n = 201), while amelanotic metastases were typified by linear serpentine vessels and a white structureless pattern. No significant difference was found between amelanotic melanoma metastases and CMs of other primary tumours.ConclusionsThe head and neck area is a common site for distant CMs. Our study confirms that most pigmented melanoma metastasis are structureless blue on dermatoscopy and may mimic blue nevi. Amelanotic metastases are typified by linear serpentine vessels and a white structureless pattern, regardless of the primary tumour.
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