Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Joe Whitney"'
Autor:
Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein, Najwa Albashir, Amal Hussein, Ilaria Poggiolini, Saba F. Elhag, Sasirekha Palaniswamy, Marios Kambouris, Maria de Fatima Janjua, Mohamed O. El Tahir, Ahsan Nazeer, Durre Shahwar, Muhammad Waqar Azeem, Younes Mokrab, Nazim Abdel Aati, Ammira Akil, Stephen W. Scherer, Madeeha Kamal, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently
Externí odkaz:
https://doaj.org/article/05529e45040b4a24a408cfbaedbd8c6f
Autor:
Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson W.L. Sung, Joe Whitney, Zhuozhi Wang, Rohan V. Patel, Katherine Keenan, Anat Halevy, Naim Panjwani, Julie Avolio, Cheng Wang, Guillaume Côté-Maurais, Stéphanie Bégin, Damien Adam, Emmanuelle Brochiero, Candice Bjornson, Mark Chilvers, April Price, Michael Parkins, Richard van Wylick, Dimas Mateos-Corral, Daniel Hughes, Mary Jane Smith, Nancy Morrison, Elizabeth Tullis, Anne L. Stephenson, Pearce Wilcox, Bradley S. Quon, Winnie M. Leung, Melinda Solomon, Lei Sun, Felix Ratjen, Lisa J. Strug
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100156- (2023)
Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.3
Externí odkaz:
https://doaj.org/article/000a1d3c634e4c91b0e728e58acc8bdb
Autor:
Richard D. Corbett, Robert Eveleigh, Joe Whitney, Namrata Barai, Mathieu Bourgey, Eric Chuah, Joanne Johnson, Richard A. Moore, Neda Moradin, Karen L. Mungall, Sergio Pereira, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Richard F. Wintle, Jiannis Ragoussis, Lisa J. Strug, Jo-Anne Herbrick, Naveed Aziz, Steven J. M. Jones, Mark Lathrop, Stephen W. Scherer, Alfredo Staffa, Andrew J. Mungall
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Population sequencing often requires collaboration across a distributed network of sequencing centers for the timely processing of thousands of samples. In such massive efforts, it is important that participating scientists can be confident that the
Externí odkaz:
https://doaj.org/article/6d3b633afd534eac825a2ae7518681de
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada Chan, Worrawat Engchuan, Edward Higginbotham, Jennifer Howe, Livia Loureiro, Miriam Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Jacob Vorstman, David Glazer, Dean Hartley, Stephen Scherer
Publikováno v:
European Neuropsychopharmacology. 63:e45-e46
Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D’abate, Clarissa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma’n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows the detection of all types of genetic variants. With the aim of generating an unprecedented resource
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b717e0844196ee000bbf7582208abb19
https://doi.org/10.1101/2022.05.05.22274031
https://doi.org/10.1101/2022.05.05.22274031
A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expression
Autor:
Delnaz Roshandel, Scott Mastromatteo, Cheng Wang, Jiafen Gong, Bhooma Thiruvahindrapuram, Wilson W.L. Sung, Zhuozhi Wang, Omar Hamdan, Joe Whitney, Naim Panjwani, Fan Lin, Katherine Keenan, Angela Chen, Mohsen Esmaeili, Anat Halevy, Julie Avolio, Felix Ratjen, Juan C. Celedón, Erick Forno, Wei Chen, Soyeon Kim, Lei Sun, Johanna M. Rommens, Lisa J. Strug
Variable number of tandem repeats (VNTRs) are major source of genetic variation in human. However due to their repetitive nature and large size, it is challenging to genotype them by short-read sequencing. Therefore, there is limited understanding of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e50e223305c854803153bc2b7ad27364
https://doi.org/10.1101/2022.03.28.22272580
https://doi.org/10.1101/2022.03.28.22272580
Autor:
Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson WL Sung, Joe Whitney, Zhuozhi Wang, Rohan V Patel, Katherine Keenan, Anat Halevy, Naim Panjwani, Julie Avolio, Cheng Wang, Guillaume Côté-Maurais, Stéphanie Bégin, Damien Adam, Emmanuelle Brochiero, Candice Bjornson, Mark Chilvers, April Price, Michael Parkins, Richard van Wylick, Dimas Mateos-Corral, Daniel Hughes, Mary Jane Smith, Nancy Morrison, Elizabeth Tullis, Anne L Stephenson, Pearce Wilcox, Bradley S Quon, Winnie M Leung, Melinda Solomon, Lei Sun, Felix Ratjen, Lisa J Strug
Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. For population studies, phase is often inferred from external data but read-based phasing approaches that span long genomic distances would b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2bee7a4d3021ec41ff4c5915cdb67a8
https://doi.org/10.1101/2022.03.28.486092
https://doi.org/10.1101/2022.03.28.486092
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D'Abate, Clarrisa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma'n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Publikováno v:
Cell. 185:4409-4427.e18
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents a
Autor:
Sergio L. Pereira, Jo-Anne Herbrick, Joanne Johnson, Stephen W. Scherer, Karen Mungall, Robert Eveleigh, Eric Chuah, Richard F. Wintle, Richard D. Corbett, Naveed Aziz, Richard A Moore, Joe Whitney, Mathieu Bourgey, Namrata Barai, Bhooma Thiruvahindrapuram, Neda Moradin, Lisa J. Strug, Jiannis Ragoussis, Alfredo Staffa, Mark Lathrop, Andrew J. Mungall, Steven J.M. Jones, Miriam S. Reuter
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)
Frontiers in Genetics, Vol 11 (2020)
Population sequencing often requires collaboration across a distributed network of sequencing centers for the timely processing of thousands of samples. In such massive efforts, it is important that participating scientists can be confident that the
Autor:
Silvina Guijarro, Daniel J. Turner, Isabel Rueda, Keith K. Vaux, Amaia Hervás, Caroline M. Nievergelt, Stephen W. Scherer, Roser Corominas, Denis Bisson, William M. Brandler, Yan Yang, Michelle S. Maile, Shih C. Tang, Claudio Toma, Christina Corsello, Shirley Tan, Jonathan Sebat, Prateek Tandon, Joe Whitney, Maria J. Arranz, Timothy Pang, Amalio Telenti, Zhuozhi Wang, Danny Antaki, Alysson R. Muotri, J. Craig Venter, Karen Pierce, Eoghan D. Harrington, Eric Courchesne, Karen Messer, Madhusudan Gujral, Sissel Juul, Boyko Kakaradov, Oanh Hong, Morgan L. Kleiber, Bru Cormand, Timothy R. Chapman, Stephen F. Kingsmore, Gaganjot Kaur, Lilia M. Iakoucheva, Joseph G. Gleeson, Bhooma Thiruvahindrapuram
Publikováno v:
Science (New York, N.Y.), vol 360, iss 6386
Brandler, WM; Antaki, D; Gujral, M; Kleiber, ML; Whitney, J; Maile, MS; et al.(2018). Paternally inherited cis-regulatory structural variants are associated with autism. SCIENCE, 360(6386), 327-330. doi: 10.1126/science.aan2261. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/5vm6k60d
Science
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Brandler, WM; Antaki, D; Gujral, M; Kleiber, ML; Whitney, J; Maile, MS; et al.(2018). Paternally inherited cis-regulatory structural variants are associated with autism. SCIENCE, 360(6386), 327-330. doi: 10.1126/science.aan2261. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/5vm6k60d
Science
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Inherited variation contributes to autismAbout one-quarter of genetic variants that are associated with autism spectrum disorder (ASD) are due to de novo mutations in protein-coding genes. Brandleret al.wanted to determine whether changes in noncodin