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FinnGen provides genetic insights from a well-phenotyped isolated population.
Mitja I Kurki, Juha Karjalainen, Priit Palta, Timo P Sipilä, Kati Kristiansson, Kati M Donner, Mary P Reeve, Hannele Laivuori, Mervi Aavikko, Mari A Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto A Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G Elnahas, Benjamin Sun, Christopher N Foley, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A Dada, Zhihao Ding, Margaret G Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R Graham, Eric M Green, Antti Hakanen, Marco Hautalahti, Åsa K Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, FinnGen, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V Mozaffari, Mari EK Niemi, Marianna Niemi, Teemu Niiranen, Christopher J O Donnell, Ma En Obeidat, George Okafo, Hanna M Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S Paul, Margit Pelkonen, Rion K Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-Yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae Hoon Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A Turunen, Jacob C Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi P Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J Daly, Aarno Palotie
Jan 19, 2023
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived...
FinnGen provides genetic insights from a well-phenotyped isolated population.
Mitja I Kurki, Juha Karjalainen, Priit Palta, Timo P Sipilä, Kati Kristiansson, Kati M Donner, Mary P Reeve, Hannele Laivuori, Mervi Aavikko, Mari A Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto A Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G Elnahas, Benjamin Sun, Christopher N Foley, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A Dada, Zhihao Ding, Margaret G Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R Graham, Eric M Green, Antti Hakanen, Marco Hautalahti, Åsa K Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, FinnGen, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V Mozaffari, Mari EK Niemi, Marianna Niemi, Teemu Niiranen, Christopher J O Donnell, Ma En Obeidat, George Okafo, Hanna M Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S Paul, Margit Pelkonen, Rion K Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-Yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae Hoon Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A Turunen, Jacob C Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi P Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J Daly, Aarno Palotie
Feb 25, 2023
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived...
FinnGen provides genetic insights from a well-phenotyped isolated population.
Mitja I Kurki, Juha Karjalainen, Priit Palta, Timo P Sipilä, Kati Kristiansson, Kati M Donner, Mary P Reeve, Hannele Laivuori, Mervi Aavikko, Mari A Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto A Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G Elnahas, Benjamin Sun, Christopher N Foley, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A Dada, Zhihao Ding, Margaret G Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R Graham, Eric M Green, Antti Hakanen, Marco Hautalahti, Åsa K Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V Mozaffari, Mari E K Niemi, Marianna Niemi, Teemu Niiranen, Christopher J O Donnell, Ma En Obeidat, George Okafo, Hanna M Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S Paul, Margit Pelkonen, Rion K Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-Yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae Hoon Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A Turunen, Jacob C Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi P Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J Daly, Aarno Palotie
Feb 19, 2023
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived...
Humans Disease Genetic Predisposition to Disease Gene Frequency Phenotype Middle Aged Estonia Finland Meta-Analysis as Topic Genome-Wide Association Study United Kingdom White People
Published by: Nature
FinnGen provides genetic insights from a well-phenotyped isolated population
Mitja I. Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson, Kati M. Donner, Mary P. Reeve, Hannele Laivuori, Mervi Aavikko, Mari A. Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto A. Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O. Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G. Elnahas, Benjamin Sun, Christopher N. Foley, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A. Dada, Zhihao Ding, Margaret G. Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R. Graham, Eric M. Green, Antti Hakanen, Marco Hautalahti, Åsa K. Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V. Mozaffari, Mari E. K. Niemi, Marianna Niemi, Teemu Niiranen, Christopher J. O´Donnell, Ma´en Obeidat, George Okafo, Hanna M. Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S. Paul, Margit Pelkonen, Rion K. Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A. Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-Yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae Hoon Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A. Turunen, Jacob C. Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S. Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi P. Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J. Daly, Aarno Palotie
Feb 09, 2023
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived...
FinnGen provides genetic insights from a well-phenotyped isolated population
Mitja I. Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson, Kati M. Donner, Mary P. Reeve, Hannele Laivuori, Mervi Aavikko, Mari A. Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto A. Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O. Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G. Elnahas, Benjamin Sun, Christopher N. Foley, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A. Dada, Zhihao Ding, Margaret G. Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R. Graham, Eric M. Green, Antti Hakanen, Marco Hautalahti, Åsa K. Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V. Mozaffari, Mari E. K. Niemi, Marianna Niemi, Teemu Niiranen, Christopher J. O´Donnell, Ma´en Obeidat, George Okafo, Hanna M. Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S. Paul, Margit Pelkonen, Rion K. Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A. Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-Yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae Hoon Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A. Turunen, Jacob C. Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S. Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi P. Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J. Daly, Aarno Palotie
Feb 24, 2023
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived...
FinnGen provides genetic insights from a well-phenotyped isolated population
Mitja I. Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson, Kati M. Donner, Mary P. Reeve, Hannele Laivuori, Mervi Aavikko, Mari A. Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto A. Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O. Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G. Elnahas, Benjamin Sun, Christopher N. Foley, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A. Dada, Zhihao Ding, Margaret G. Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R. Graham, Eric M. Green, Antti Hakanen, Marco Hautalahti, Åsa K. Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio, Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V. Mozaffari, Mari E. K. Niemi, Marianna Niemi, Teemu Niiranen, Christopher J. O´Donnell, Ma´en Obeidat, George Okafo, Hanna M. Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S. Paul, Margit Pelkonen, Rion K. Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A. Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-Yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae Hoon Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A. Turunen, Jacob C. Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S. Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi P. Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J. Daly, Aarno Palotie
Jan 19, 2023
Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived...
Genetic associations of protein-coding variants in human disease.
Benjamin B Sun, Mitja I Kurki, Christopher N Foley, Asma Mechakra, Chia-Yen Chen, Eric Marshall, Jemma B Wilk, Biogen Biobank Team, Mohamed Chahine, Philippe Chevalier, Georges Christé, FinnGen, Aarno Palotie, Mark J Daly, Heiko Runz
Mar 02, 2022
Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have so far remained largely underpowered in relation to identifying associations in the...
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.
Lourdes Ortiz-Fernández, Francisco David Carmona, Raquel López-Mejías, Maria Francisca González-Escribano, Paul A Lyons, Ann W Morgan, Amr H Sawalha, Peter A Merkel, Kenneth GC Smith, Miguel A González-Gay, Javier Martín, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group Spanish GCA Study Group
Apr 18, 2018
OBJETIVE: Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we...
Autoantibodies outcomes research systemic sclerosis Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Case-Control Studies Epigenesis Genetic Female Genetic Loci Genetic Predisposition to Disease Giant Cell Arteritis HLA-DQ Antigens HLA-DQ beta-Chains Humans Jumonji Domain-Containing Histone Demethylases Linkage Disequilibrium Male Phenotype Polymorphism Single Nucleotide Protein Array Analysis Systemic Vasculitis Takayasu arteritis
Coffee Consumption and Cardiovascular Diseases
Coffee consumption has been linked to a lower risk of cardiovascular disease in observational studies, but whether the associations are causal is not known. We conducted a Mendelian randomization investigation to assess the...
Published by: Nutrients
The United Kingdom Childhood Cancer Study
UK Childhood Cancer Study Investigators
Feb 21, 2020
An investigation into the possible causes of childhood cancer has been carried out throughout England, Scotland and Wales over the period 1991-1998. All children known to be suffering from one or other type of the disease over...
Coffee Consumption and Cardiovascular Diseases
Coffee consumption has been linked to a lower risk of cardiovascular disease in observational studies, but whether the associations are causal is not known. We conducted a Mendelian randomization investigation to assess the...
Coffee Consumption and Cardiovascular Diseases
Coffee consumption has been linked to a lower risk of cardiovascular disease in observational studies, but whether the associations are causal is not known. We conducted a Mendelian randomization investigation to assess the...
cardiovascular disease Coffee Mendelian Randomization Analysis Adult Aged Body Mass Index Cardiovascular Diseases Coffee Genetic Predisposition to Disease genetic variation Genome-Wide Association Study Humans Mendelian Randomization Analysis Middle Aged Odds Ratio Polymorphism Single Nucleotide Risk Factors Smoking White People
Diffuse Intracranial Injury Patterns Are Associated with Impaired Cerebrovascular Reactivity in Adult Traumatic Brain Injury
Frederick A Zeiler, François Mathieu, Miguel Monteiro, Ben Glocker, Ari Ercole, Erta Beqiri, Manuel Cabeleira, Nino Stocchetti, Peter Smielewski, Marek Czosnyka, Virginia Newcombe, David K Menon, the CENTER-TBI High-Resolution ICU (HR ICU) Sub-Study Participants and Investigators CENTER-TBI High-Resolution ICU (HR ICU) Sub-Study Participants and Investigators
Feb 28, 2020
Recent single-center retrospective analysis displayed the association between admission computed tomography (CT) markers of diffuse intracranial injury and worse cerebrovascular reactivity. The goal of this study was to further...
Circulating vitamin C and digestive system cancers
Susanna C Larsson, Amy M Mason, Mathew Vithayathil, Paul Carter, Siddhartha Kar, Ju-Sheng Zheng, Stephen Burgess
Sep 20, 2022
BACKGROUND & AIMS: Vitamin C is an antioxidant with a potential role in the prevention of digestive system cancers, but there is yet no consensus whether vitamin C has a causal role in these cancers. The aim of this study was to...
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M. Ruddy, UK VHL Study Group UK VHL Study Group, Neha Shah, George Sultana, Emma R. Woodward, Richard N. Sandford, Katie M. Snape, Eamonn R. Maher
Sep 17, 2021
Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease....
Sleep duration and risk of overall and 22 site-specific cancers
Olga E Titova, Karl Michaëlsson, Mathew Vithayathil, Amy M Mason, Siddhartha Kar, Stephen Burgess, Susanna C Larsson
Aug 21, 2020
Studies of sleep duration in relation to the risk of site-specific cancers other than breast cancer are scarce. Furthermore, the available results are inconclusive and the causality remains unclear. We aimed to investigate the...
Mendelian randomization Cancer SINGLE-NUCLEOTIDE POLYMORPHISMS Sleep Adult Aged Biological Specimen Banks Female Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Mendelian Randomization Analysis Middle Aged Neoplasms Odds Ratio Polymorphism Single Nucleotide Risk Factors Sleep Time Factors United Kingdom
An observational study showed that explaining randomization using gambling-related metaphors and computer-agency descriptions impeded randomized clinical trial recruitment.
Marcus Jepson, Daisy Elliott, Carmel Conefrey, Julia Wade, Leila Rooshenas, Caroline Wilson, David Beard, Jane M Blazeby, Alison Birtle, Alison Halliday, Rob Stein, Jenny L Donovan, CSAW study group, Chemorad study group, POUT study group, ACST-2 study group, OPTIMA prelim study group
Aug 23, 2018
OBJECTIVES: To explore how the concept of randomization is described by clinicians and understood by patients in randomized controlled trials (RCTs) and how it contributes to patient understanding and recruitment. STUDY DESIGN...
Patient information qualitative research randomization Randomized controlled trials Recruitment Recruitment to RCTs Comprehension Decision Making Computer-Assisted Gambling Humans metaphor Patient Education as Topic Patient Selection qualitative research Random Allocation Randomized Controlled Trials as Topic United Kingdom
Differences in access to Emergency Paediatric Intensive Care and care during Transport (DEPICT)
Padmanabhan Ramnarayan, Ruth Evans, Elizabeth S Draper, Sarah E Seaton, Jo Wray, Stephen Morris, Christina Pagel, DEPICT Study Investigators
Nov 17, 2020
INTRODUCTION: Following centralisation of UK paediatric intensive care, specialist retrieval teams were established who travel to general hospitals to stabilise and transport sick children to regional paediatric intensive care...
The STRATAA study protocol
Thomas C Darton, James E Meiring, Susan Tonks, Md Arifuzzaman Khan, Farhana Khanam, Mila Shakya, Deus Thindwa, Stephen Baker, Buddha Basnyat, John D Clemens, Gordon Dougan, Christiane Dolecek, Sarah J Dunstan, Melita A Gordon, Robert S Heyderman, Kathryn E Holt, Virginia E Pitzer, Firdausi Qadri, K Zaman, Andrew J Pollard, STRATAA Study Consortium
Apr 10, 2019
INTRODUCTION: Invasive infections caused by Salmonella enterica serovar Typhi and Paratyphi A are estimated to account for 12-27 million febrile illness episodes worldwide annually. Determining the true burden of typhoidal...
Africa Asia Diagnosis enteric fever febrile illness healthcare utilisation infection transmission resource-limited setting Salmonella paratyphi A Salmonella typhi seroepidemiology serosurveillance vaccination programme Adolescent Bangladesh Carrier State Censuses Child Child Preschool Cost of Illness Female Health Resources Humans Incidence Infant Infant Newborn Malawi Male Models Theoretical Nepal Patient Acceptance of Health Care Population Surveillance Research Design Seroepidemiologic Studies Surveys and Questionnaires Typhoid Fever
New Therapeutics in Alzheimer's Disease Longitudinal Cohort study (NTAD)
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study
F Mone, RY Eberhardt, RK Morris, ME Hurles, DJ McMullan, ER Maher, J Lord, LS Chitty, JL Giordano, RJ Wapner, MD Kilby, CODE Study Collaborators
Sep 10, 2020
OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A...
Genetically proxied milk consumption and risk of colorectal, bladder, breast, and prostate cancer
Susanna C Larsson, Amy M Mason, Siddhartha Kar, Mathew Vithayathil, Paul Carter, John A Baron, Karl Michaëlsson, Stephen Burgess
Nov 06, 2020
BACKGROUND: Observational studies have shown that milk consumption is inversely associated with colorectal, bladder, and breast cancer risk, but positively associated with prostate cancer. However, whether the associations...
Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study
Rachel M Freathy, M Geoffrey Hayes, Margrit Urbanek, Lynn P Lowe, Hoon Lee, Christine Ackerman, Timothy M Frayling, Nancy J Cox, David B Dunger, Alan R Dyer, Andrew T Hattersley, Boyd E Metzger, William L Lowe, HAPO Study Cooperative Research Group
Feb 21, 2020
OBJECTIVE: Common genetic variants in GCK and TCF7L2 are associated with higher fasting glucose and type 2 diabetes in nonpregnant populations. However, their associations with glucose levels from oral glucose tolerance tests...
Birth Weight Female genetic variation Genotype Germinal Center Kinases Humans Hyperglycemia Infant Newborn Polymorphism Single Nucleotide Pregnancy Pregnancy Complications Pregnancy Outcome Pregnancy in Diabetics Protein Serine-Threonine Kinases TCF Transcription Factors Transcription Factor 7-Like 2 Protein White People
A Modified Progressive Supranuclear Palsy Rating Scale.
Marie-Therese Grötsch, Gesine Respondek, Carlo Colosimo, Yaroslau Compta, Jean Christophe Corvol, Joaquim Ferreira, Meret Koroni Huber, Martin Klietz, Lea FM Krey, Johannes Levin, Milica Jecmenica-Lukic, Daniel Macías-García, Wassilios G Meissner, Pablo Mir, Huw Morris, Christer Nilsson, James B Rowe, Klaus Seppi, Maria Stamelou, John C van Swieten, Gregor Wenning, Teodoro del Ser, Lawrence I Golbe, Günter U Höglinger, the ProPSP Study Group, and the Movement Disorder Society-Endorsed PSP Study Group Describe PSP Study Group
Jan 26, 2021
BACKGROUND: The Progressive Supranuclear Palsy Rating Scale is a prospectively validated physician-rated measure of disease severity for progressive supranuclear palsy. We hypothesized that, according to experts' opinion...
Is loneliness associated with increased health and social care utilisation in the oldest old? Findings from a population-based longitudinal study.
Hanyuying Wang, Emily Zhao, Jane Fleming, Tom Dening, Kay-Tee Khaw, Carol Brayne, CC75C Study Collaboration
Apr 17, 2019
OBJECTIVES: The present study aimed to examine the impact of loneliness on health and social care service use in the oldest old over a 7-year follow-up. DESIGN: Prospective study. SETTING: UK population-based cohort....
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