Results 1 to 10 of about 2,512 (86)
RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data
iScience, 2022 Summary: Human endogenous retroviruses (HERVs) integrated into the human genome as a result of ancient exogenous infections and currently comprise ∼8% of our genome.Renata Kabiljo, Harry Bowles, Heather Marriott, Ashley R. Jones, Clement R. Bouton, Richard J.B. Dobson, John P. Quinn, Ahmad Al Khleifat, Chad M. Swanson, Ammar Al-Chalabi, Alfredo Iacoangeli +10 moredoaj +1 more sourceAuthor Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration [PDF]
Nature CommunicationsSarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw +48 moredoaj +2 more sourcesAn assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data
Frontiers in Bioinformatics, 2023 There is a growing interest in the study of human endogenous retroviruses (HERVs) given the substantial body of evidence that implicates them in many human diseases.Harry Bowles, Renata Kabiljo, Renata Kabiljo, Ahmad Al Khleifat, Ashley Jones, John P. Quinn, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Richard J. B. Dobson, Chad M. Swanson, Ammar Al-Chalabi, Ammar Al-Chalabi, Alfredo Iacoangeli, Alfredo Iacoangeli, Alfredo Iacoangeli +15 moredoaj +1 more sourcePredicting post-operative right ventricular failure using video-based deep learning
Nature Communications, 2021 The echocardiogram allows for a comprehensive assessment of the cardiac musculature and valves, but its rich temporally resolved data remain underutilized.Rohan Shad, Nicolas Quach, Robyn Fong, Patpilai Kasinpila, Cayley Bowles, Miguel Castro, Ashrith Guha, Erik E. Suarez, Stefan Jovinge, Sangjin Lee, Theodore Boeve, Myriam Amsallem, Xiu Tang, Francois Haddad, Yasuhiro Shudo, Y. Joseph Woo, Jeffrey Teuteberg, John P. Cunningham, Curtis P. Langlotz, William Hiesinger +19 moredoaj +1 more sourceThe history and geographic distribution of a KCNQ1 atrial fibrillation risk allele
Nature Communications, 2021 Many rare high-impact variants have been associated with disease, but the origins and functional impact are not always explored. Here, the authors trace the ancestry of a rare high impact atrial fibrillation allele in KCNQ1, and use iPSC-derived ...Shannon Hateley, Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Joshua G. Schraiber, Shiya Song, Colin T. Maguire, Natalia Torres, Michael Riedel, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Shuping Lai, Chase Pribble, Lindsay Meyers, Derek Lundahl, Jake Byrnes, Julie M. Granka, Christopher A. Kauffman, Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Stacey Knight, J. Brent Muhlestein, John F. Carlquist, Jeffrey L. Anderson, Kenneth G. Chahine, Khushi U. Shah, Catherine A. Ball, Ivor J. Benjamin, Mark Yandell, Martin Tristani-Firouzi +33 moredoaj +1 more sourceThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Nature Communications, 2022 Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes.Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw +48 moredoaj +1 more sourceStructural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis
npj Genomic Medicine, 2022 There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a Ahmad Al Khleifat, Alfredo Iacoangeli, Joke J. F. A. van Vugt, Harry Bowles, Matthieu Moisse, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Aleksey Shatunov, Johnathan Cooper-Knock, Simon Topp, Ross Byrne, Cinzia Gellera, Victoria López, Ashley R. Jones, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Wouter van Rheenen, Brendan Kenna, Kristel R. Van Eijk, Kevin Kenna, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen E. Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chio, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Monica P. Panades, Jesus S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazli Basak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al-Chalabi +46 moredoaj +1 more source