Using deep learning to annotate the protein universe

Autor: Maxwell L, Bileschi, David, Belanger, Drew H, Bryant, Theo, Sanderson, Brandon, Carter, D, Sculley, Alex, Bateman, Mark A, DePristo, Lucy J, Colwell

Publikováno v: Nature biotechnology. 40(6)

Understanding the relationship between amino acid sequence and protein function is a long-standing challenge with far-reaching scientific and translational implications. State-of-the-art alignment-based techniques cannot predict function for one-thir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e33057febcc1ff30a5729a329afb4cf1
https://pubmed.ncbi.nlm.nih.gov/35190689

Challenges of Accuracy in Germline Clinical Sequencing Data

Autor: Ryan Poplin, Justin M. Zook, Mark A. DePristo

Publikováno v: JAMA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6dff1d51f6da56b93cd4972a512d80
https://doi.org/10.1001/jama.2021.0407

Using Deep Learning to Annotate the Protein Universe

Autor: D. Sculley, Brandon Carter, Maxwell L. Bileschi, Mark A. DePristo, Drew Bryant, Theo Sanderson, Lucy J. Colwell, David Belanger

Understanding the relationship between amino acid sequence and protein function is a long-standing problem in molecular biology with far-reaching scientific implications. Despite six decades of progress, state-of-the-art techniques cannot annotate 1/

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9bdd04bdccfa8c028caa3d2a86186a
https://doi.org/10.1101/626507

The genetic architecture of type 2 diabetes

Autor: Clement Ma, Liisa Hakaste, Claes Ladenvall, Massimo Mangino, Lars Lind, Aaron G. Day-Williams, Ryan Poplin, Thomas Schwarzmayr, Annette Peters, Thomas Meitinger, Satish Kumar, Kyong Soo Park, Ching-Yu Cheng, Farook Thameem, Kyle J. Gaulton, Olov Rolandsson, Yossi Farjoun, Neil Robertson, Mauricio O. Carneiro, Mark A. DePristo, Pierre Fontanillas, Ruth J. F. Loos, Heather M. Highland, Vilmantas Giedraitis, Gemma Buck, Fredrik Karpe, Mohammad Kamran Ikram, Alex S. F. Doney, Hae Kyung Im, Eric S. Lander, Johanna Kuusisto, Dorothée Thuillier, Denis Rybin, Jacquelyn Murphy, Benjamin M. Neale, Martina Müller-Nurasyid, Eric R. Gamazon, Johanne Marie Justesen, Tin Aung, Vincent K. L. Lam, John Danesh, Donna M. Lehman, Goo Jun, Marit E. Jørgensen, Christian Herder, Edmund Chan, Pamela J. Hicks, Todd Green, Claudia Langenberg, Yoon Shin Cho, James G. Wilson, Daniel E. Hale, Rector Arya, Giriraj R. Chandak, Juan Fernandez Tajes, Jaakko Tuomilehto, Christopher P. Jenkinson, Anders Rosengren, Torsten Lauritzen, Michael Griswold, Karen L. Mohlke, Amy J. Swift, Alena Stančáková, Christian Fuchsberger, Iksoo Huh, Nikhil Tandon, João Fadista, Christa Meisinger, Gonçalo R. Abecasis, Pål R. Njølstad, Dwaipayan Bharadwaj, Richard M. Watanabe, Shaun Purcell, Veikko Salomaa, Tim D. Spector, Paul W. Franks, Adam E. Locke, Sharon P. Fowler, Panos Deloukas, Reedik Mägi, Solomon K. Musani, Kee Seng Chia, Barbara Thorand, Soo Heon Kwak, Annemari Käräjämäki, Evelin Mihailov, John Blangero, Thomas Wieland, Christian Gieger, E. Shyong Tai, Jianjun Liu, James B. Meigs, Teemu Kuulasmaa, Martin Hrabé de Angelis, Francis S. Collins, Tim M. Strom, Tibor V. Varga, Juyoung Lee, Mark I. McCarthy, Domenico Palli, Jong-Young Lee, Benjamin Glaser, Tasha E. Fingerlin, Stephen O'Rahilly, Andrew T. Hattersley, Gil Atzmon, Manuel A. Rivas, Noël P. Burtt, Ivan Brandslund, Young-Jin Kim, Dorairaj Prabhakaran, Xu Wang, Taylor J. Maxwell, Valeriya Lyssenko, Frank B. Hu, Adolfo Correa, Khalid Shakir, Kathleen A. Jablonski, Yingchang Lu, Wei-Yen Lim, Min Jin Go, William R. Scott, Hanna E. Abboud, Leena Kinnunen, Inês Barroso, Gabriela L. Surdulescu, Peng Chen, Robert Sladek, Marju Orho-Melander, Xueling Sim, Robert A. Scott, Joanna M. M. Howson, Markku Laakso, David Altshuler, Vidya S. Farook, Harald Grallert, Janina S. Ried, Vineeta Agarwala, Philippe Froguel, Nicholas J. Wareham, Tiinamaija Tuomi, Joon Yoon, Heikki A. Koistinen, Toni I. Pollin, Heiner Boeing, Marie Loh, Nicola L. Beer, Joanne E. Curran, Lars Lannfelt, Dorota Pasko, Taesung Park, David Buck, Nir Barzilai, Stephen C. J. Parker, Michael Roden, Bok-Ghee Han, David Aguilar, Timothy Fennell, Sian-Tsung Tan, Gregory P. Wilson, Momoko Horikoshi, Cramer Christensen, Craig L. Hanis, Gilean McVean, Benjamin F. Voight, Wolfgang Rathmann, Jared Maguire, Ashok Kumar, Donald W. Bowden, Michael L. Stitzel, Yongkang Kim, Christine Blancher, Jason Carey, Min-Seok Kwon, Nicholette D. Palmer, Oluf Pedersen, Niels Grarup, Peter S. Chines, Cornelia Huth, James Scott, Torben Hansen, Konstantin Strauch, Erwin P. Bottinger, Andrew D. Morris, Anette P. Gjesing, Erik Ingelsson, Colin N. A. Palmer, Claudia H. T. Tam, Stacey Gabriel, Pablo Cingolani, Beverley Balkau, Michael Boehnke, Peter M. Nilsson, Wing-Yee So, Andrew R. Wood, Lili Milani, Ravindranath Duggirala, Qibin Qi, Mark Walker, Weiping Jia, Mark Seielstad, Narisu Narisu, Tien Yin Wong, Martijn van de Bunt, Anubha Mahajan, Davis J. McCarthy, Ann-Christine Syvänen, Jennifer Kriebel, N. William Rayner, Han Chen, Jinyan Huang, Chiea Chuen Khor, Richard N. Bergman, Shah Ebrahim, Dylan Hodgkiss, Weihua Zhang, Manjinder S. Sandhu, Richard D. Pearson, Juliana C.N. Chan, Rainer Rauramaa, Ralph A. DeFronzo, Andrew Farmer, Yoshihiko Nagai, Allan Linneberg, Herman A. Taylor, Jose C. Florez, Jaspal S. Kooner, Lori L. Bonnycastle, Jeroen R. Huyghe, Leif Groop, Joseph Trakalo, Sobha Puppala, Bong-Jo Kim, Kathleen Stirrups, Kerrin S. Small, Cecilia M. Lindgren, Jennifer E. Below, Heung Man Lee, Inga Prokopenko, Liming Liang, Timothy M. Frayling, Uzma Afzal, Mark J. Daly, Yik Ying Teo, Andrew P. Morris, Phoenix Kwan, Yvonne T. van der Schouw, Cheng Hu, Katharine R. Owen, Alisa K. Manning, Christopher J. Groves, Josée Dupuis, Ryan P. Welch, Loukas Moutsianas, Joshua D. Smith, Tanya M. Teslovich, Robert C. Onofrio, Maggie C.Y. Ng, Peter Donnelly, Tõnu Esko, Matt Neville, Bo Isomaa, Anne U. Jackson, Jette Bork-Jensen, Barry I. Freedman, Yi Chen, Danish Saleheen, Lu Qi, Laura J. Scott, Jasmina Kravic, Paul Elliott, Mette Hollensted, Carmen Navarro, Selyeong Lee, Benjamin Lehne, Thomas Illig, Nancy J. Cox, Jonathan C. Levy, George B. Grant, John C. Chambers, Adam S. Butterworth, Ronald C.W. Ma, Teresa Ferreira, John R. B. Perry, Eleftheria Zeggini, Hyun Min Kang, Loic Yengo, Eric Banks, Jae-Hoon Lee, Anna L. Gloyn, Christopher Hartl, Wei Zhao, Andres Metspalu, Keng-Han Lin, Graeme I. Bell, Jason Flannick, Torben Jørgensen, Thomas W. Blackwell, Heather M. Stringham, Olle Melander, Omri Gottesman

Publikováno v: Nature, 536(7614), 41-+. Nature Publishing Group
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Tajes, J F, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Müller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, M C Y, Palmer, N D, Balkau, B, Stančáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G, Wong, T Y, Njølstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jørgensen, M E, Jørgensen, T, Ladenvall, C, Justesen, J M, Käräjämäki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, Hrabé de Angelis, M, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvänen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Mägi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature, vol. 536, no. 7614, pp. 41-47 . https://doi.org/10.1038/nature18642
NATURE
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Tajes, J F, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Mueller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P-M, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X-G, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A K, Ng, M C Y, Palmer, N D, Balkau, B, Stancáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W-Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M E, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G A, Wong, T Y, Njolstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jorgensen, M E, Jorgensen, T, Ladenvall, C, Justesen, J M, Karajamaki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M J, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A J, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, de Angelis, M H, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvanen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M S, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Magi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G R, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature Genetics, vol. 536, no. 7614, pp. 41-+ . https://doi.org/10.1038/nature18642
Fuchsberger, C, Flannick, J, Teslovich, T M, Mahajan, A, Agarwala, V, Gaulton, K J, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, D J, Rivas, M A, Perry, J R B, Sim, X, Blackwell, T W, Robertson, N R, Rayner, N W, Cingolani, P, Locke, A E, Fernandez Tajes, J, Highland, H M, Dupuis, J, Chines, P S, Lindgren, C M, Hartl, C, Jackson, A U, Chen, H, Huyghe, J R, van de Bunt, M, Pearson, R D, Kumar, A, Müller-Nurasyid, M, Grarup, N, Stringham, H M, Gamazon, E R, Lee, J, Chen, Y, Scott, R A, Below, J E, Chen, P, Huang, J, Go, M J, Stitzel, M L, Pasko, D, Parker, S C J, Varga, T V, Green, T, Beer, N L, Day-Williams, A G, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, M K, Kim, B-J, Kim, Y, Kim, Y J, Kwon, M-S, Lee, J, Lee, S, Lin, K-H, Maxwell, T J, Nagai, Y, Wang, X, Welch, R P, Yoon, J, Zhang, W, Barzilai, N, Voight, B F, Han, B-G, Jenkinson, C P, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, M C Y, Palmer, N D, Balkau, B, Stancáková, A, Abboud, H E, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, J D, Neale, B M, Purcell, S, Butterworth, A S, Howson, J M M, Lee, H M, Lu, Y, Kwak, S-H, Zhao, W, Danesh, J, Lam, V K L, Park, K S, Saleheen, D, So, W Y, Tam, C H T, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, C-Y, Palli, D, Correa, A, Curran, J E, Rybin, D, Farook, V S, Fowler, S P, Freedman, B I, Griswold, M, Hale, D E, Hicks, P J, Khor, C-C, Kumar, S, Lehne, B, Thuillier, D, Lim, W Y, Liu, J, van der Schouw, Y T, Loh, M, Musani, S K, Puppala, S, Scott, W R, Yengo, L, Tan, S-T, Taylor, H A, Thameem, F, Wilson, G, Wong, T Y, Njølstad, P R, Levy, J C, Mangino, M, Bonnycastle, L L, Schwarzmayr, T, Fadista, J, Surdulescu, G L, Herder, C, Groves, C J, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, H A, Doney, A S F, Kinnunen, L, Esko, T, Farmer, A J, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jørgensen, M E, Jørgensen, T, Ladenvall, C, Justesen, J M, Käräjämäki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M, Orho-Melander, M, Qi, L, Qi, Q, Roden, M, Rolandsson, O, Swift, A, Rosengren, A H, Stirrups, K, Wood, A R, Mihailov, E, Blancher, C, Carneiro, M O, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, Hrabé de Angelis, M, Deloukas, P, Gjesing, A P, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, F B, Isomaa, B, Karpe, F, Liang, L, Peters, A, Huth, C, O'Rahilly, S P, Palmer, C N A, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, R M, Syvänen, A-C, Bergman, R N, Bharadwaj, D, Bottinger, E P, Cho, Y S, Chandak, G R, Chan, J C N, Chia, K S, Daly, M J, Ebrahim, S B, Langenberg, C, Elliott, P, Jablonski, K A, Lehman, D M, Jia, W, Ma, R C W, Pollin, T I, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, Y Y, Zeggini, E, Loos, R J F, Small, K S, Ried, J S, DeFronzo, R A, Grallert, H, Glaser, B, Metspalu, A, Wareham, N J, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, H K, Illig, T, Franks, P W, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Mägi, R, Lind, L, Farjoun, Y, Owen, K R, Gloyn, A L, Strauch, K, Tuomi, T, Kooner, J S, Lee, J-Y, Park, T, Donnelly, P, Morris, A D, Hattersley, A T, Bowden, D W, Collins, F S, Atzmon, G, Chambers, J C, Spector, T D, Laakso, M, Strom, T M, Bell, G I, Blangero, J, Duggirala, R, Tai, E S, McVean, G, Hanis, C L, Wilson, J G, Seielstad, M, Frayling, T M, Meigs, J B, Cox, N J, Sladek, R, Lander, E S, Gabriel, S, Burtt, N P, Mohlke, K L, Meitinger, T, Groop, L, Abecasis, G, Florez, J C, Scott, L J, Morris, A P, Kang, H M, Boehnke, M, Altshuler, D & McCarthy, M I 2016, ' The genetic architecture of type 2 diabetes ', Nature, vol. 536, no. 7614, pp. 41-47 . https://doi.org/10.1038/nature18642
PMC
Nature, 536(7614), 41. Nature Publishing Group
Nature
Nature, 536(7614), 41-47. Nature Publishing Group

The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1508fe3fd38042ce3a7e808bc55bf202
http://www.scopus.com/inward/record.url?scp=84978128486&partnerID=8YFLogxK

A guide to deep learning in healthcare

Autor: Katherine Chou, Jeffrey Dean, Volodymyr Kuleshov, Alexandre Robicquet, Sebastian Thrun, Mark A. DePristo, Greg S. Corrado, Bharath Ramsundar, Andre Esteva, Claire Cui

Publikováno v: Nature medicine. 25(1)

Here we present deep-learning techniques for healthcare, centering our discussion on deep learning in computer vision, natural language processing, reinforcement learning, and generalized methods. We describe how these computational techniques can im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10b058c2565e151cd244bc6cbbeed480
https://pubmed.ncbi.nlm.nih.gov/30617335