| 1. |
- Villarroel, Brian, et al.
(författare)
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The VASCO project : 100 red transients and their follow up
- 2020
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Ingår i: Proceedings of the International Astronautical Congress, IAC. - : International Astronautical Federation, IAF.
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Konferensbidrag (refereegranskat)abstract
- The Vanishing & Appearing Sources during a Century of Observations (VASCO) project investigates astronomical surveys spanning a 70 years time interval, searching for unusual and exotic transients. We present herein the VASCO Citizen Science Project, that uses three different approaches to the identification of unusual transients in a given set of candidates: hypothesis-driven, exploratory-driven and machine learning-driven (which is of particular benefit for SETI searches). To address the big data challenge, VASCO combines methods from the Virtual Observatory, a user-aided machine learning and visual inspection through citizen science. In this article, we demonstrate the citizen science project, the new and improved candidate selection process and give a progress report. We also present the VASCO citizen science network led by amateur astronomy associations mainly located in Algeria, Cameroon and Nigeria. At the moment of writing, the citizen science project has carefully examined 12,000 candidate image pairs in the data, and has so far identified 713 objects classified as “vanished”. The most interesting candidates will be followed up with optical and infrared imaging, together with the observations by the most potent radio telescopes.
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| 2. |
- Nepomuceno, Thales C., et al.
(författare)
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BRCA1 frameshift variants leading to extended incorrect protein C termini
- 2023
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Ingår i: Human Genetics and Genomics Advances. - : Elsevier. - 2666-2477. ; 4:4
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Tidskriftsartikel (refereegranskat)abstract
- Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the implementation of targeted preventive and therapeutic interventions. Despite significant progress in variant classification efforts, a sizable portion of reported BRCA1 variants remain as variants of uncertain clinical significance (VUSs). Variants leading to premature protein termination and loss of essential functional domains are typically classified as pathogenic. However, the impact of frameshift variants that result in an extended incorrect terminus is not clear. Using validated functional assays, we conducted a systematic functional assessment of 17 previously reported BRCA1 extended incorrect terminus variants (EITs) and concluded that 16 constitute loss-of-function variants. This suggests that most EITs are likely to be pathogenic. However, one variant, c.5578dup, displayed a protein expression level, affinity to known binding partners, and activity in transcription and homologous recombination assays comparable to the wild-type BRCA1 protein. Twenty-three additional carriers of c.5578dup were identified at a US clinical diagnostic lab and assessed using a family history likelihood model providing, in combination with the functional data, a likely benign interpretation. These results, consistent with family history data in the current study and available data from ClinVar, indicate that most, but not all, BRCA1 variants leading to an extended incorrect terminus constitute loss-of-function variants and underscore the need for comprehensive assessment of individual variants.
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| 3. |
- Villarroel, Beatriz, et al.
(författare)
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Launching the VASCO Citizen Science Project
- 2022
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Ingår i: Universe. - : MDPI AG. - 2218-1997. ; 8:11, s. 561-
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Tidskriftsartikel (refereegranskat)abstract
- The Vanishing & Appearing Sources during a Century of Observations (VASCO) project investigates astronomical surveys spanning a time interval of 70 years, searching for unusual and exotic transients. We present herein the VASCO Citizen Science Project, which can identify unusual candidates driven by three different approaches: hypothesis, exploratory, and machine learning, which is particularly useful for SETI searches. To address the big data challenge, VASCO combines three methods: the Virtual Observatory, user-aided machine learning, and visual inspection through citizen science. Here we demonstrate the citizen science project and its improved candidate selection process, and we give a progress report. We also present the VASCO citizen science network led by amateur astronomy associations mainly located in Algeria, Cameroon, and Nigeria. At the moment of writing, the citizen science project has carefully examined 15,593 candidate image pairs in the data (ca. 10% of the candidates), and has so far identified 798 objects classified as "vanished". The most interesting candidates will be followed up with optical and infrared imaging, together with the observations by the most potent radio telescopes.
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