P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates

Autor: Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Mutaz Amin, Carmen Glaze, Riley Grant, Josephine Lee, Nick Watts, Michael Wilson, Heidi Rehm, Anne O'Donnell-Luria

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101035- (2024)

Externí odkaz: https://doaj.org/article/62af8a966ab74b3386b69e6d3a733082

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Autor: Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and asses

Externí odkaz: https://doaj.org/article/20bcc638047441c3919ace2b384c0600

Using Satellites to Track Indicators of Global Air Pollution and Climate Change Impacts: Lessons Learned From a NASA‐Supported Science‐Stakeholder Collaborative

Autor: Susan C. Anenberg, Matilyn Bindl, Michael Brauer, Juan J. Castillo, Sandra Cavalieri, Bryan N. Duncan, Arlene M. Fiore, Richard Fuller, Daniel L. Goldberg, Daven K. Henze, Jeremy Hess, Tracey Holloway, Peter James, Xiaomeng Jin, Iyad Kheirbek, Patrick L. Kinney, Yang Liu, Arash Mohegh, Jonathan Patz, Marcia P. Jimenez, Ananya Roy, Daniel Tong, Katy Walker, Nick Watts, J. Jason West

Publikováno v: GeoHealth, Vol 4, Iss 7, Pp n/a-n/a (2020)

Abstract The 2018 NASA Health and Air Quality Applied Science Team (HAQAST) “Indicators” Tiger Team collaboration between NASA‐supported scientists and civil society stakeholders aimed to develop satellite‐derived global air pollution and cli

Externí odkaz: https://doaj.org/article/eb3d953ca9e942e2a682ad9a484e9898

The 2020 report of The Lancet Countdown on health and climate change: responding to converging crises

Autor: Su Golder, Nigel W. Arnell, Jonathon Taylor, Jessica Beagley, Stuart Capstick, Tadj Oreszczyn, Hugh Montgomery, Ian Hamilton, Yang Liu, Kristine Belesova, Kris A. Murray, Slava Mikhaylov, Pete Lampard, Matthew Winning, Karyn Morrissey, Jodi D. Sherman, Jeremy J. Hess, Mark A. Maslin, Jaime Martinez-Urtaza, Patrick L. Kinney, Mahnaz Rabbaniha, Lucy McAllister, Olivia Pearman, Markus Amann, Marco Springmann, Matthew J. Eckelman, Celia McMichael, Marcia P. Jimenez, Peter Byass, James Milner, Zhao Liu, Maquins Odhiambo Sewe, Liuhua Shi, Joy Shumake-Guillemot, Maziar Moradi-Lakeh, Matthias Otto, Peng Gong, Hilary Graham, Shouro Dasgupta, Delia Grace, Luis E. Escobar, Fereidoon Owfi, Melissa C. Lott, Samantha Coleman, Paul Wilkinson, Michael Davies, Kristie L. Ebi, Paula Dominguez-Salas, Maxwell T. Boykoff, David Pencheon, Robert Dubrow, Wenjia Cai, Marina Romanello, Paul Ekins, Paul Haggar, Gregor Kiesewetter, Sonja Ayeb-Karlsson, Alice McGushin, Simon Munzert, Lucien Georgeson, Tord Kjellstrom, Bryan N. Vu, Joacim Rocklöv, Nick Hughes, Claudia Di Napoli, Ruth Quinn, Diarmid Campbell-Lendrum, Carole Dalin, Niheer Dasandi, Harry Kennard, Meaghan Daly, Shih Che Hsu, Tara Neville, Nick Watts, Anthony Costello, Bruno Lemke, Maria Nilsson, Dominic Kniveton, Rachel Lowe, Stella M. Hartinger, Elizabeth J. Z. Robinson, Meisam Tabatabaei, Paul Drummond, Ilan Kelman, Jonathan Chambers, Jan C. Semenza, Joaquin Trinanes

Publikováno v: The Lancet, Vol. 397, No 10269 (2021) pp. 129-170

The Lancet Countdown is an international collaboration, established to provide an independent, global monitoring system dedicated to tracking the emerging health profile of the changing climate. The 2020 report presents 43 indicators across five sect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e5d11c40a6e93be5c2c3331cc2c0169
https://doi.org/10.1016/s0140-6736(20)32290-x

The 2018 report of the Lancet Countdown on health and climate change: shaping the health of nations for centuries to come

Autor: Markus Amann, Sonja Ayeb-Karlsson, Olivia Saxer, Lucy McAllister, Julia Tomei, Jan C. Semenza, Maxwell T. Boykoff, Tadj Oreszczyn, David Pencheon, Slava Mikhaylov, Paul Wilkinson, Hugh Montgomery, Jaime Martinez-Urtaza, Anneliese Depoux, Lucien Georgeson, Kristie L. Ebi, Maziar Moradi-Lakeh, Karyn Morrissey, Maquins Odhiambo Sewe, Olivia Pearman, Tord Kjellstrom, Mark A. Maslin, Diarmid Campbell-Lendrum, Delia Grace, Peter Byass, Rebecca Steinbach, Lu Liang, Michael Davies, Nigel W. Arnell, Jonathan Chambers, Paula Dominguez-Salas, Helen L. Berry, Mahnaz Rabbaniha, Jeremy J. Hess, Niheer Dasandi, Joy Shumake-Guillemot, Helen Fischer, James Milner, Lucia Fernandez Montoya, Kris A. Murray, Stefanie Schütte, Hilary Graham, Fereidoon Owfi, Peng Gong, Nick Watts, Elizabeth J. Z. Robinson, Joacim Rocklöv, Melissa C. Lott, Steve Pye, Meisam Tabatabaei, Nicola Wheeler, Joaquin Trinanes, Paul Drummond, Ilan Kelman, Wenjia Cai, Paul Ekins, Gregor Kiesewetter, Tara Neville, Anthony Costello, Kristine Belesova, Ian Hamilton, Timothy Bouley, Meaghan Daly, Bruno Lemke, Maria Nilsson, Rachel Lowe, Stella M. Hartinger, Dominic Kniveton

Publikováno v: The Lancet. 392:2479-2514

The Lancet Countdown: tracking progress on health and climate change was established to provide an independent, global monitoring system dedicated to tracking the health dimensions of the impacts of, and the response to, climate change. The Lancet Co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df6075c8238271d8dd9ed585bcc9e6aa
https://doi.org/10.1016/s0140-6736(18)32594-7