Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Sean Delong"'
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation
Autor:
Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey Kalbfleisch, Rebekah K. Jobling, Stephen W. Scherer, Raymond H. Kim, S. Mohsen Hosseini
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a multitude of independent databases, often with the aid of several, mostly inde
Externí odkaz:
https://doaj.org/article/d674837ee7fe4996b3c6b8ee73fcff1d
Autor:
Kilannin Krysiak, Arpad M Danos, Jason Saliba, Joshua F McMichael, Adam C Coffman, Susanna Kiwala, Erica K Barnell, Lana Sheta, Cameron J Grisdale, Lynzey Kujan, Shahil Pema, Jake Lever, Sarah Ridd, Nicholas C Spies, Veronica Andric, Andreea Chiorean, Damian T Rieke, Kaitlin A Clark, Caralyn Reisle, Ajay C Venigalla, Mark Evans, Payal Jani, Hideaki Takahashi, Avila Suda, Peter Horak, Deborah I Ritter, Xin Zhou, Benjamin J Ainscough, Sean Delong, Chimene Kesserwan, Mario Lamping, Haolin Shen, Alex R Marr, My H Hoang, Kartik Singhal, Mariam Khanfar, Brian V Li, Wan-Hsin Lin, Panieh Terraf, Laura B Corson, Yasser Salama, Katie M Campbell, Kirsten M Farncombe, Jianling Ji, Xiaonan Zhao, Xinjie Xu, Rashmi Kanagal-Shamanna, Ian King, Kelsy C Cotto, Zachary L Skidmore, Jason R Walker, Jinghui Zhang, Aleksandar Milosavljevic, Ronak Y Patel, Rachel H Giles, Raymond H Kim, Lynn M Schriml, Elaine R Mardis, Steven J M Jones, Gordana Raca, Shruti Rao, Subha Madhavan, Alex H Wagner, Malachi Griffith, Obi L Griffith
Publikováno v:
Nucleic Acids Research. 51:D1230-D1241
CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence characterizing the clinical utility of cancer variants. As clinical sequencing becomes more pre
Autor:
Dena Salehipour, Kirsten M Farncombe, Veronica Andric, Safa Ansar, Sean Delong, Eric Li, Samantha Macpherson, Sarah Ridd, Deborah I Ritter, Courtney Thaxton, Raymond H Kim
Publikováno v:
Database. 2023
Von Hippel–Lindau (VHL) disease is a rare, autosomal dominant disorder that predisposes individuals to developing tumors in many organs. There is significant phenotypic variability and genetic variants encountered within this syndrome, posing a con
Autor:
Kilannin Krysiak, Arpad M. Danos, Susanna Kiwala, Joshua F. McMichael, Adam C. Coffman, Erica K. Barnell, Lana Sheta, Jason Saliba, Cameron J. Grisdale, Lynzey Kujan, Shahil Pema, Jake Lever, Nicholas C. Spies, Andreea Chiorean, Damian T. Rieke, Kaitlin A. Clark, Payal Jani, Hideaki Takahashi, Peter Horak, Deborah I. Ritter, Xin Zhou, Benjamin J. Ainscough, Sean Delong, Mario Lamping, Alex R. Marr, Brian V. Li, Wan-Hsin Lin, Panieh Terraf, Yasser Salama, Katie M. Campbell, Kirsten M. Farncombe, Jianling Ji, Xiaonan Zhao, Xinjie Xu, Rashmi Kanagal-Shamanna, Kelsy C. Cotto, Zachary L. Skidmore, Jason R. Walker, Jinghui Zhang, Aleksandar Milosavljevic, Ronak Y. Patel, Rachel H. Giles, Raymond H. Kim, Lynn M. Schriml, Elaine R. Mardis, Steven J. M. Jones, Gordana Raca, Shruti Rao, Subha Madhavan, Alex H. Wagner, Obi L. Griffith, Malachi Griffith
Publikováno v:
Nat Cancer
As guidelines, therapies, and literature on cancer variants expand, the lack of consensus variant interpretations impedes clinical applications. CIViC is a public domain, crowd-sourced, and adaptable knowledgebase of evidence for the Clinical Interpr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed50e6a9356f3f2f4e3e63d326c2871
https://eprints.gla.ac.uk/279775/1/279775.pdf
https://eprints.gla.ac.uk/279775/1/279775.pdf
Autor:
Andreea Chiorean, Kirsten M. Farncombe, Sean Delong, Veronica Andric, Safa Ansar, Clarissa Chan, Kaitlin Clark, Arpad M. Danos, Yizhuo Gao, Rachel H. Giles, Anna Goldenberg, Payal Jani, Kilannin Krysiak, Lynzey Kujan, Samantha Macpherson, Eamonn R. Maher, Liam G. McCoy, Yasser Salama, Jason Saliba, Lana Sheta, Malachi Griffith, Obi L. Griffith, Lauren Erdman, Arun Ramani, Raymond H. Kim
Publikováno v:
Human mutation. 43(9)
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It is caused by pathogenic variants in the VHL tumor suppressor gene. Standa
Publikováno v:
Proceedings of the ACM on Human-Computer Interaction. 3:1-22
Biological networks analysis has become a systematic and large-scale phenomenon. Most biological systems are often difficult to interpret due to the complexity of relationships and structural features. Moreover, existing primarily web-based interface
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation
Autor:
Priya Dhir, S. Mohsen Hosseini, Rebekah Jobling, Kirsten M. Farncombe, Sean DeLong, Stephen W. Scherer, Veronica Andric, John B. A. Okello, Raymond H. Kim, Roozbeh Manshaei, Esha Joshi, Kelsey Kalbfleisch, Cherith Somerville
Background Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a multitude of independent databases, often with the aid of several, mostly independent,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a0eca0621c047ba28b7b08d621c523
https://doi.org/10.1101/2020.12.04.408336
https://doi.org/10.1101/2020.12.04.408336
Autor:
Samantha Macpherson, Safa Ansar, Kirsten Farncombe, Veronica Andric, Chansonette Badduke, Andreea Chiorean, Sean Delong, Yizhuo Gao, Deborah Ritter, Courtney Thaxton, Raymond Kim
Publikováno v:
Cancer Genetics. :15
Autor:
Kirsten Farncombe, Andreea Chiorean, Sean Delong, Veronica Andric, Safa Ansar, Clarissa Chan, Arpad Danos, Yizhuo Gao, Anna Goldenberg, Malachi Griffith, Obi Griffith, Payal Jani, Kilannin Krysiak, Samantha Macpherson, Liam McCoy, Lauren Erdman, Arun Ramani, Raymond Kim
Publikováno v:
Cancer Genetics. :9
Autor:
Matthew Kyan, Aneesh P. Tarun, Ali Mazalek, Shahin Khayyer, Sean DeLong, Roozbeh Manshaei, David Chiang, Apurva Gupta, Justin DiGregorio, Uzair Mayat
Publikováno v:
Creativity & Cognition
Advances in biology and computational power have led to the availability of large biological data sets, yet these advances raise new design challenges. Designers must build effective tools that cater to the needs of biologists and data scientists in