A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Autor: Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-26 (2024)

Abstract Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification

Externí odkaz: https://doaj.org/article/1d31f2afe5204250bcedb785593a825f

O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation

Autor: Michael Duyzend, Harrison Brand, Christopher Whelan, John Lemanski, Monica Salani, Stephanie Hao, Isaac Wong, Elise Valkanas, Caroline Cusick, Lori Dobson, Courtney Studwell, Kathleen Gianforcaro, Stephanie Guseh, Benjamin Currall, Kathryn Gray, Michael Talkowski

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100646- (2023)

Externí odkaz: https://doaj.org/article/e6da832d16934a15a0fe8d3b8e126cd5

Recently surveyed lakes in northern Manitoba and Saskatchewan, Canada: characteristics and critical loads of acidity

Autor: Isaac WONG, John J. GIBSON, Dean S. JEFFRIES, Raymond G. SEMKIN

Publikováno v: Journal of Limnology, Vol 69, Iss 1s, Pp 45-55 (2010)

Based on minimal information, lakes in the western Canadian provinces of Manitoba (MB) and Saskatchewan (SK) have long been considered unaffected by acid rain. However, emissions of acidifying pollutants from MB smelters and oil sand processing in Al

Externí odkaz: https://doaj.org/article/360244a7086f46b3b8d74e43f3e4f540

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Autor: Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver

Publikováno v: Genet Med

PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15
https://doi.org/10.1016/j.gim.2021.12.005

Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD

Autor: Rinse K. Weersma, Valerie Collij, Manuel A. Rivas, Marijn C. Visschedijk, Arnau Vich Vila, Eleonora A. M. Festen, Ranko Gacesa, Gerard Dijkstra, Christine Stevens, Laura A Bolte, Jack Fu, Jingyuan Fu, Hendrik M. van Dullemen, Ramnik J. Xavier, Mark J. Daly, Shixian Hu, Isaac Wong, Cisca Wijmenga, Alexandra Zhernakova, Michael E. Talkowski, Alexander Kurilshikov, Floris Imhann

Publikováno v: Gut, 70(2):319706, 285-296. BMJ PUBLISHING GROUP
Gut

ObjectiveBoth the gut microbiome and host genetics are known to play significant roles in the pathogenesis of IBD. However, the interaction between these two factors and its implications in the aetiology of IBD remain underexplored. Here, we report o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21eb9555deaaa02faf9299a8e3ed84ed
https://hdl.handle.net/11370/a998b15e-8684-4445-931f-a6bf6575f877