Zobrazeno 1 - 10
of 29
pro vyhledávání: '"John B. A. Okello"'
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:
Roozbeh Manshaei, Daniele Merico, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv Chaturvedi, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, Christian R. Marshall, Rebekah K. Jobling, Erwin Oechslin, Rachel M. Wald, Candice K. Silversides, Stephen W. Scherer, Raymond H. Kim, Anne S. Bassett
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Recent genome-wide studies of rare genetic variants have begun to implicate novel mechanisms for tetralogy of Fallot (TOF), a severe congenital heart defect (CHD). To provide statistical support for case-only data without parental genomes, we re-anal
Externí odkaz:
https://doaj.org/article/146cab81df634ca49addda31257411e3
Autor:
Qiliang Ding, Cherith Somerville, Roozbeh Manshaei, Brett Trost, Miriam S. Reuter, Kelsey Kalbfleisch, Kaitlin Stanley, John B. A. Okello, S. Mohsen Hosseini, Eriskay Liston, Meredith Curtis, Mehdi Zarrei, Edward J. Higginbotham, Ada J. S. Chan, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Raymond H. Kim, Rebekah K. Jobling
Publikováno v:
Human Genetics. 142:201-216
Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretation workflows require extensive back-and-forth with multiple tools and databases. This increases complexity and time burden, poten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3d8cdae1fbc7797f1130d8f79784994
https://doi.org/10.1007/s00439-022-02494-1
https://doi.org/10.1007/s00439-022-02494-1
Autor:
Palak G Patel, Shamini Selvarajah, Karl-Philippe Guérard, John M S Bartlett, Jacques Lapointe, David M Berman, John B A Okello, Paul C Park
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0179732 (2017)
Cancer biomarker studies often require nucleic acid extraction from limited amounts of formalin-fixed, paraffin-embedded (FFPE) tissues, such as histologic sections or needle cores. A major challenge is low quantity and quality of extracted nucleic a
Externí odkaz:
https://doaj.org/article/989820f4fbc34cf88a64f8463a9063c3
Autor:
Stephen W. Scherer, Sergio L. Pereira, Robin Z. Hayeems, Rebekah Jobling, Christian R. Marshall, Raymond H. Kim, Luc Mertens, S. Mohsen Hosseini, Priya Dhir, Ritu B. Aul, Iris Cohn, Sarah Bowdin, Roozbeh Manshaei, Meredith Curtis, Mike Seed, Eriskay Liston, John B. A. Okello, Reem Khan, Rajiv Chaturvedi, Akshaya Raajkumar, Linh Ly, Miriam S. Reuter, Bhooma Thiruvahindrapuram
Publikováno v:
Genetics in Medicine
Purpose This study investigated the diagnostic utility of nontargeted genomic testing in patients with pediatric heart disease. Methods We analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fedd9e327cc3be2abf121fee17390405
https://doi.org/10.1038/s41436-020-0757-x
https://doi.org/10.1038/s41436-020-0757-x
Autor:
Kelsey Kalbfleisch, Robin Z. Hayeems, Miriam S. Reuter, Iris Cohn, Rebekah K. Jobling, Raymond H. Kim, Roozbeh Manshaei, Tara Paton, John B. A. Okello, Ruud H J Verstegen, Abby J. Krupski, Reem Khan, Aaron Goldman, Eriskay Liston, Meredith Curtis, Shinya Ito
Publikováno v:
JAMA Network Open
Key Points Question What is the clinical utility of a pharmacogenomic testing program that uses both point-of-care and preemptive approaches to assess potential responses to drugs in a pediatric tertiary care setting? Findings In this cohort study of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd943cd3ff8f50f697db4c6d9d2d71b
https://pubmed.ncbi.nlm.nih.gov/34037737
https://pubmed.ncbi.nlm.nih.gov/34037737
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:
Winnie Fu, Nathan E How, David M. Berman, Rachel Livergant, Thiago Vidotto, D. Robert Siemens, Liana B. Guedes, Palak G. Patel, Tamara Jamaspishvili, Anne Marie Mes-Masson, Tamara L. Lotan, Veronique Ouellet, Rodolfo Borges dos Reis, Madhuri Koti, Fred Saad, John B. A. Okello, Atsunari Kawashima, Clarissa Gondim Picanço, Jeremy A. Squire, Yingwei P. Peng, Yi Niu, Isabelle Caven
Publikováno v:
J Natl Cancer Inst
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Background Phosphatase and tensin homolog (PTEN) loss has long been associated with adverse findings in early prostate cancer. Studies to date have yet to employ quantitative methods (qPTEN) for measuring of prognostically relevant amounts of PTEN lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0d058142c5934fa49a3e86f74969c9
https://pubmed.ncbi.nlm.nih.gov/32129860
https://pubmed.ncbi.nlm.nih.gov/32129860
Autor:
Laura A. Lee, Tanya Sack, Robert J. Gooding, Rachel Dunn, Joseph L. Chin, Atsunari Kawashima, Audrey Ellis, Karl-Philippe Guérard, Elizabeth Marra, Glenn Bauman, Vinolia Arthur-Hayward, Chelsea L. Jackson, Fadi Brimo, Simone Chevalier, Khurram M. Siddiqui, David M. Berman, Karen Mackie, Thomas Wessel, Dan Dion, Tamara Jamaspishvili, Suzanne Boursalie, Anna Ying-Wah Lee, Lee-Anne Pickard, Jacques Lapointe, Palak G. Patel, Eleonora Scarlata, Nathan E How, John M. S. Bartlett, John B. A. Okello, Khalil Hetou, Madeleine Moussa, Paul C. Boutros
Publikováno v:
Medical Biophysics Publications
Patel, P G, Wessel, T, Kawashima, A, Okello, J B, Jamaspishvili, T, Guerard, K-P, Lee, L, Ying-Wah Lee, A, E. How, N, Dion, D, Scarlata, E, L. Jackson, C, Boursalie, S, Sack, T, Dunn, R, Moussa, M, Mackie, K, Ellis, A, Marra, E, Chin, J, Siddiqui, K, Hetou, K, Pickard, L-A, Arthur Hayward, V, Bauman, G, Chevalier, S, Brimo, F, Boutros, P, Lapointe, J, Bartlett, J, J. Gooding, R & M. Berman, D 2019, ' A three gene DNA methylation biomarker accurately classifies early stage prostate cancer ', Prostate . https://doi.org/10.1002/pros.23895
Patel, P G, Wessel, T, Kawashima, A, Okello, J B, Jamaspishvili, T, Guerard, K-P, Lee, L, Ying-Wah Lee, A, E. How, N, Dion, D, Scarlata, E, L. Jackson, C, Boursalie, S, Sack, T, Dunn, R, Moussa, M, Mackie, K, Ellis, A, Marra, E, Chin, J, Siddiqui, K, Hetou, K, Pickard, L-A, Arthur Hayward, V, Bauman, G, Chevalier, S, Brimo, F, Boutros, P, Lapointe, J, Bartlett, J, J. Gooding, R & M. Berman, D 2019, ' A three gene DNA methylation biomarker accurately classifies early stage prostate cancer ', Prostate . https://doi.org/10.1002/pros.23895
Background We identify and validate accurate diagnostic biomarkers for prostate cancer through a systematic evaluation of DNA methylation alterations. Materials and methods We assembled three early prostate cancer cohorts (total patients = 699) from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ff13d6577bd2a95ff43c8114d9bb6f
https://pubmed.ncbi.nlm.nih.gov/31433512
https://pubmed.ncbi.nlm.nih.gov/31433512
Autor:
Shamini Selvarajah, David M. Berman, John B. A. Okello, Paul C. Park, John M. S. Bartlett, Karl Philippe Guérard, Suzanne Boursalie, Joshua Ejdelman, Palak G. Patel, Nathan E How, Jacques Lapointe
Publikováno v:
Journal of Visualized Experiments : JoVE
Formalin-fixed paraffin embedded tissue (FFPET) represents a valuable, well-annotated substrate for molecular investigations. The utility of FFPET in molecular analysis is complicated both by heterogeneous tissue composition and low yields when extra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1c93ad5bf81253a2a011fbe430ec7b
http://europepmc.org/articles/PMC5091935
http://europepmc.org/articles/PMC5091935