Accès ouvert
2026
software
OpenAlex
Ammar S. Naqvi, Ryan Corbett, Jo Lynne Rokita, Patricia Sullivan et autres
What's Changed Skip update_intervar.R if no variants to update by @pj-sullivan in https://github.com/diskin-lab-chop/AutoGVP/pull/305 Colnames fo gnomad v4.1.0 annotations by @pj-sullivan in https://github.com/diskin-lab-chop/AutoGVP/pull/306 Fix PM5 using nonsense variants from ClinVar by @pj-sullivan in https://github.com/diskin-lab-chop/AutoGVP/pull/308 Docker to v2.0.2 by @pj-sullivan in https://github.com/diskin-lab-chop/AutoGVP/pull/310 Full Changelog: …
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Accès ouvert
2026
article
OpenAlex
Nicole L. Tignor, Mateusz Koptyra, Shrabanti Chowdhury, Francesca Petralia et autres
High-grade gliomas (HGGs) in children and adolescents and young adults (AYA) exhibit distinct biology across the neurodevelopmental spectrum. To dissect tumor-intrinsic molecular characteristics independent of developmental variation, we perform comprehensive proteogenomic analyses of tumors from 112 HGG patients aged 0-40 years. Our …
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(code pays fourni par la source)
Accès ouvert
2026
software
OpenAlex
Ammar S. Naqvi, Ryan Corbett, Jo Lynne Rokita, Patricia Sullivan et autres
What's Changed Update README to v2 docker by @pj-sullivan in https://github.com/diskin-lab-chop/AutoGVP/pull/288 V4 data release by @rjcorb in https://github.com/diskin-lab-chop/AutoGVP/pull/291 Add script to update ClinVar-informed Intervar criteria by @rjcorb in https://github.com/diskin-lab-chop/AutoGVP/pull/292 Update colnames arguments by @rjcorb in https://github.com/diskin-lab-chop/AutoGVP/pull/294 update README docker version by @rjcorb …
us, in, si, jp
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Ryan J. Corbett, Rebecca Kaufman, Shelly W. McQuaid, Zalman Vaksman et autres
The contribution of rare pathogenic/likely pathogenic (P/LP) germline variants to pediatric central nervous system (CNS) tumor development remains understudied. Here, we characterize the prevalence and biological significance of germline P/LP variants in cancer predisposition genes across 830 CNS tumor patients from the …
us, ch
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Accès ouvert
2025
article
OpenAlex
Thomas Allan Scott, Christian Alan Paul Smethurst, Yvonne Westermaier, Moriz Mayer et autres
Building on the role of human intuition in small molecule drug design, we explored whether crowdsourcing could recruit citizen scientists to this task while in parallel building awareness for this scientific process. Here, we introduce Drugit ( https://drugit.org ), the small molecule …
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Accès ouvert
2025
article
OpenAlex
Anahita Fathi Kazerooni, Adam Kraya, Komal S. Rathi, Meen Chul Kim et autres
ABSTRACT BACKGROUND AND PURPOSE: Cancers show heterogeneity at various levels, from genome to radiological imaging. This study aimed to explore the interplay between genomic, transcriptomic, and radiophenotypic data in pediatric low-grade glioma (pLGG), the most common group of brain tumors in children. …
us
(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Ryan J. Corbett, Rebecca Kaufman, Shelly Weiss McQuaid, Zalman Vaksman et autres
The contribution of rare pathogenic/likely pathogenic (P/LP) germline variants to pediatric central nervous system (CNS) tumor development remains understudied. Here, we characterized the prevalence and clinical significance of germline P/LP variants in cancer predisposition genes across 830 CNS tumor patients from the …
us, ch
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Anahita Fathi Kazerooni, Adam Kraya, Komal S. Rathi, Meen Chul Kim et autres
Pediatric low-grade gliomas (pLGGs) exhibit heterogeneous prognoses and variable responses to treatment, leading to tumor progression and adverse outcomes in cases where complete resection is unachievable. Early prediction of treatment responsiveness and suitability for immunotherapy has the potential to improve clinical management …
us
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Accès ouvert
2025
article
OpenAlex
Zhuangzhuang Geng, Eric K. Wafula, Ryan J. Corbett, Yuanchao Zhang et autres
BACKGROUND: In 2019, the Open Pediatric Brain Tumor Atlas (OpenPBTA) was created as a global, collaborative open-science initiative to genomically characterize 1,074 pediatric brain tumors and 22 patient-derived cell lines. Here, we present an extension of the OpenPBTA called the Open Pediatric …
us
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Anahita Fathi Kazerooni, Adam Kraya, Komal S. Rathi, Meen Chul Kim et autres
ABSTRACT Background Cancers show heterogeneity at various levels, from genome to radiological imaging. This study aimed to explore the interplay between genomic, transcriptomic, and radiophenotypic data in pediatric low-grade glioma (pLGG), the most common group of brain tumors in children. Methods We …
us
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Zhuangzhuang Geng, Eric K. Wafula, Ryan J. Corbett, Yuanchao Zhang et autres
Background: In 2019, the Open Pediatric Brain Tumor Atlas (OpenPBTA) was created as a global, collaborative open-science initiative to genomically characterize 1,074 pediatric brain tumors and 22 patient-derived cell lines. Here, we present an extension of the OpenPBTA called the Open Pediatric …
us
(code pays fourni par la source)
Accès ouvert
2024
conference-abstract
OpenAlex
Ryan J. Corbett, Rebecca Kaufman, Shelly Weiss McQuaid, Zalman Vaksman et autres
Abstract BACKGROUND The contribution of rare pathogenic germline variation to central nervous system (CNS) tumor formation in pediatric patients without a family history of cancer remains unclear. METHODS We characterized the prevalence of pathogenic germline variants in 214 cancer predisposition genes (CPGs) …
us
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