Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Alicja, Wilk"'
Autor:
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate L. Thomson, Hugh Watkins, Paul J. R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)
Abstract Background International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Ge
Externí odkaz:
https://doaj.org/article/dff8a2d61caa43d29ddbbb7e3f495ffe
Autor:
Carolyn Y. Ho, Declan P. O'Regan, Michelle Michels, Magdi H. Yacoub, William Midwinter, Roddy Walsh, Mian Ahmad, Francesco Mazzarotto, Antonio de Marvao, Euan A. Ashley, Risha Govind, Alexandre C. Pereira, John L. Jefferies, Jodie Ingles, Alicja Wilk, Nicola Whiffin, Xiaolei Zhang, Leonardo Bottolo, Nicholas Li, James S. Ware, Angharad M. Roberts, Christopher Semsarian, Iacopo Olivotto, Paul J.R. Barton, Pantazis I. Theotokis, Daniel Jacoby, Mona Allouba, Yasmine Aguib, Stuart A. Cook, Steven D. Colan, Sharlene M. Day, Chee Jian Pua, Erica Mazaika, Rachel Buchan, Gunnar Gunnarsson
Publikováno v:
Genetics in Medicine, 23(1), 69-79. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine
BackgroundAccurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning tools are useful for genome-wide variant prioritisation but remain imprecise. Since the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff7b0dc43fff7b520391ea4dbbab260
https://doi.org/10.1101/2020.03.27.010736
https://doi.org/10.1101/2020.03.27.010736
Autor:
K Thomson, Pantazis I. Theotokis, Antonio de Marvao, Mian Ahmad, Risha Govind, Alicja Wilk, Sanjay K Prasad, Nicola Whiffin, Alexander Ing, Stuart A. Cook, Francesco Mazzarotto, David Sim, A. John Baksi, Upasana Tayal, Elizabeth Edwards, Leanne E. Felkin, Angharad M. Roberts, Iacopo Olivotto, Declan P. O'Regan, Antonis Pantazis, Rachel Buchan, James S. Ware, Laura Lihua Chan, Roddy Walsh, William Midwinter, Timothy J W Dawes, Erica Mazaika, Paul J.R. Barton, Hugh Watkins, Birgit Funke
Publikováno v:
Circulation
Circulation, 141(5), 387-398. Lippincott Williams and Wilkins
Circulation, 141(5), 387-398. Lippincott Williams and Wilkins
Supplemental Digital Content is available in the text.
Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based
Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6d5f50cc6112a9c66a70ac46ac1400
http://hdl.handle.net/11379/545740
http://hdl.handle.net/11379/545740
Autor:
Alexandra C Nica, Leopold Parts, Daniel Glass, James Nisbet, Amy Barrett, Magdalena Sekowska, Mary Travers, Simon Potter, Elin Grundberg, Kerrin Small, Asa K Hedman, Veronique Bataille, Jordana Tzenova Bell, Gabriela Surdulescu, Antigone S Dimas, Catherine Ingle, Frank O Nestle, Paola di Meglio, Josine L Min, Alicja Wilk, Christopher J Hammond, Neelam Hassanali, Tsun-Po Yang, Stephen B Montgomery, Steve O'Rahilly, Cecilia M Lindgren, Krina T Zondervan, Nicole Soranzo, Inês Barroso, Richard Durbin, Kourosh Ahmadi, Panos Deloukas, Mark I McCarthy, Emmanouil T Dermitzakis, Timothy D Spector, MuTHER Consortium
Publikováno v:
PLoS Genetics, Vol 7, Iss 2, p e1002003 (2011)
While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not yet well understood. We explore in depth the role of cis-regulatory variation in three human
Externí odkaz:
https://doaj.org/article/ed6d41d2e4874ff2b5d076c62e716ffe
Autor:
S Prasad, Francesco Mazzarotto, B Funke, Nicola Whiffin, Rachel Buchan, I Olivotto, Alicja Wilk, William Midwinter, Roddy Walsh, Paul J.R. Barton, Declan P. O'Regan, Sarah Cook, J S Ware, H Watkins, Upasana Tayal
Publikováno v:
European Heart Journal. 40
Background Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based on candidate-gene studies that did not adequately account fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::868769d35389167f47d7b1e1138ea3e7
https://doi.org/10.1093/eurheartj/ehz745.0136
https://doi.org/10.1093/eurheartj/ehz745.0136
Autor:
Francesco Mazzarotto, Paz Tayal, Rachel Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Risha Govind, Erica Mazaika, Antonio De Marvao, Leanne Felkin, Timothy Dawes, Mian Ahmad, Elizabeth Edwards, Alexander Ing, Kate Thomson, Laura Chan, David Sim, John Baksi, Antonis Pantazis, Angharad Roberts, Hugh Watkins, Birgit Funke, Declan O’Regan, Iacopo Olivotto, Paul Barton, Sanjay Prasad, Stuart Cook, James Ware, Roddy Walsh
Publikováno v:
Valve Disease/Pericardial Disease/Cardiomyopathy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4dd83d9d5359852329f2eeba392260f
https://doi.org/10.1136/heartjnl-2019-bcs.118
https://doi.org/10.1136/heartjnl-2019-bcs.118
Autor:
Steven D. Colan, Rachel Buchan, Daniel Jacoby, Alexandre C. Pereira, Hugh Watkins, Leanne E. Felkin, Michelle Michels, Carolyn Y. Ho, Mian Ahmad, Sharlene M. Day, Mona Allouba, Roddy Walsh, Iacopo Olivotto, Antonio de Marvao, Francesco Mazzarotto, Risha Govind, Stuart A. Cook, Alicja Wilk, Xiaolei Zhang, James S. Ware, Erica Mazaika, Nathan Ingold, Paul J.R. Barton, Nicola Whiffin, Nicholas Li, William Midwinter, Euan A. Ashley, K Thomson
Publikováno v:
Genome Medicine, 11:5. BioMed Central Ltd.
Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-18 (2019)
Genome Medicine
Background International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Genetic tes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e6195021ab569e034bbc901320cbf0
http://hdl.handle.net/11379/551649
http://hdl.handle.net/11379/551649
Autor:
Domingo A. Pascual-Figal, Pablo García-Pavía, William Midwinter, M.A. Restrepo Cordoba, Alicja Wilk, P.J. Barton, S A Cook, Mariano Provencio, Luis Alonso-Pulpón, Alexander R. Lyon, I Serrano, J M Garcia Pinilla, Antoni Bayes-Genis, J S Ware, Risha Govind
Publikováno v:
European Heart Journal. 39
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::914db20467e0b239fa8f6014d0e7e556
https://doi.org/10.1093/eurheartj/ehy565.p1503
https://doi.org/10.1093/eurheartj/ehy565.p1503
Autor:
Sanjay K Prasad, S Wilkinson, Roddy Walsh, James S. Ware, William Midwinter, Hanna Najgebauer, Declan P. O'Regan, Upasana Tayal, Nicola Whiffin, Mian Ahmad, Risha Govind, Elizabeth Edwards, Alicja Wilk, Laura Brett, Matthew S. Edwards, Deborah J. Morris-Rosendahl, Thomas Monk, Paul J.R. Barton, Xiaolei Zhang, Stuart A. Cook, Catherine Francis, Rachel Buchan
PurposeInternationally-adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier (www.cardioclassifier.org), a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4ae9a0a7fbc92a0d10ca6fa59e2f45
Autor:
Elin Grundberg, Eshwar Meduri, Johanna K. Sandling, Åsa K. Hedman, Sarah Keildson, Alfonso Buil, Stephan Busche, Wei Yuan, James Nisbet, Magdalena Sekowska, Alicja Wilk, Amy Barrett, Kerrin S. Small, Bing Ge, Maxime Caron, So-Youn Shin, Mark Lathrop, Emmanouil T. Dermitzakis, Mark I. McCarthy, Timothy D. Spector, Jordana T. Bell, Panos Deloukas, Kourosh R. Ahmadi, Chrysanthi Ainali, Veronique Bataille, Antigone S. Dimas, Richard Durbin, Daniel Glass, Neelam Hassanali, Catherine Ingle, David Knowles, Maria Krestyaninova, Cecilia M. Lindgren, Christopher E. Lowe, Paola di Meglio, Josine L. Min, Stephen B. Montgomery, Frank O. Nestle, Alexandra C. Nica, Stephen O’Rahilly, Leopold Parts, Simon Potter, Johanna Sandling, Nicole Soranzo, Tim D. Spector, Gabriela Surdulescu, Mary E. Travers, Loukia Tsaprouni, Sophia Tsoka, Tsun-Po Yang, Krina T. Zondervan
Publikováno v:
The American Journal of Human Genetics
Epigenetic modifications such as DNA methylation play a key role in gene regulation and disease susceptibility. However, little is known about the genome-wide frequency, localization, and function of methylation variation and how it is regulated by g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489dff85d2675ec868c7963372f21d95