Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Joanna, Kaplanis"'
Autor:
Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101818- (2024)
Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from
Externí odkaz:
https://doaj.org/article/8e0772a2bdbe41f584339b04b2c8e9ed
Autor:
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male
Externí odkaz:
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Estimates of mutation rates differ between species. Here, Lindsay et al. perform side-by-side analyses of germline mutation rates using multi-sibling mouse and human pedigrees and find different mutation rates between species, also stratified by sex
Externí odkaz:
https://doaj.org/article/aa0dc48964e54ac386e118a6c152dd33
Autor:
Blagoje Soskic, Eddie Cano-Gamez, Deborah J. Smyth, Kirsty Ambridge, Ziying Ke, Julie C. Matte, Lara Bossini-Castillo, Joanna Kaplanis, Lucia Ramirez-Navarro, Anna Lorenc, Nikolina Nakic, Jorge Esparza-Gordillo, Wendy Rowan, David Wille, David F. Tough, Paola G. Bronson, Gosia Trynka
Publikováno v:
Nature Genetics. 54:817-826
During activation, T cells undergo extensive gene expression changes that shape the properties of cells to exert their effector function. Understanding the regulation of this process could help explain how genetic variants predispose to immune diseas
Autor:
Caroline F. Wright, Patrick Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah J. Lindsay, Katrina Andrews, Juliet Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, Julia Foreman, Rachel J. Hobson, Michael J. Parker, Hilary C. Martin, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth
BackgroundPediatric disorders include a range of highly genetically heterogeneous conditions that are amenable to genome-wide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits.MethodsThe Decip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::177be3acb06dd6b577adbe8be124026e
https://doi.org/10.1101/2022.07.25.22278008
https://doi.org/10.1101/2022.07.25.22278008
Autor:
Blagoje Soskic, Eddie Cano-Gamez, Deborah J. Smyth, Kirsty Ambridge, Ziying Ke, Lara Bossini-Castillo, Joanna Kaplanis, Lucia Ramirez-Navarro, Nikolina Nakic, Jorge Esparza-Gordillo, Wendy Rowan, David Wille, David F. Tough, Paola G. Bronson, Gosia Trynka
During activation, T cells undergo extensive changes in gene expression which shape the properties of cells to exert their effector function. Therefore, understanding the genetic regulation of gene expression during T cell activation provides essenti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e1308d6650b3f2bb1ae79e1a7106377
https://doi.org/10.1101/2021.12.06.470953
https://doi.org/10.1101/2021.12.06.470953
Autor:
Blagoje, Soskic, Eddie, Cano-Gamez, Deborah J, Smyth, Kirsty, Ambridge, Ziying, Ke, Julie C, Matte, Lara, Bossini-Castillo, Joanna, Kaplanis, Lucia, Ramirez-Navarro, Anna, Lorenc, Nikolina, Nakic, Jorge, Esparza-Gordillo, Wendy, Rowan, David, Wille, David F, Tough, Paola G, Bronson, Gosia, Trynka
Publikováno v:
Nature genetics. 54(6)
During activation, T cells undergo extensive gene expression changes that shape the properties of cells to exert their effector function. Understanding the regulation of this process could help explain how genetic variants predispose to immune diseas
Autor:
Christopher A. Odhams, Giuseppe Gallone, Jeremy F. McRae, Angela Barnicoat, Joanna Kaplanis, Petr Danecek, Matthew D. C. Neville, Jenny Carmichael, Tim H. H. Coorens, Patrick J. O’Brien, Matthew E. Hurles, Raheleh Rahbari, Elena Prigmore, Helen V. Firth, Benjamin Ide, Rashesh Sanghvi, Loukas Moutsianas, Patrick J. Short
SummaryMutation in the germline is the source of all evolutionary genetic variation and a cause of genetic disease. Previous studies have shown parental age to be the primary determinant of the number of new germline mutations seen in an individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6267e5bb292d6d08f3bb4d235f70766b
https://doi.org/10.1101/2021.06.01.446180
https://doi.org/10.1101/2021.06.01.446180
Autor:
Joanna, Kaplanis, Benjamin, Ide, Rashesh, Sanghvi, Matthew, Neville, Petr, Danecek, Tim, Coorens, Elena, Prigmore, Patrick, Short, Giuseppe, Gallone, Jeremy, McRae, Jenny, Carmichael, Angela, Barnicoat, Helen, Firth, Patrick, O'Brien, Raheleh, Rahbari, Chris, Odhams
Publikováno v:
Nature. 605(7910)
Mutations in the germline generates all evolutionary genetic variation and is a cause of genetic disease. Parental age is the primary determinant of the number of new germline mutations in an individual's genome
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Nature Communications
Nature Communications
Whole genome sequencing (WGS) studies have estimated the human germline mutation rate per basepair per generation (~1.2 × 10−8) to be higher than in mice (3.5–5.4 × 10−9). In humans, most germline mutations are paternal in origin and numbers