Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Shawn, Yost"'
Autor:
Lori Broderick, Shawn Yost, Dong Li, Matthew D. McGeough, Laela M. Booshehri, Marisela Guaderrama, Susannah D. Brydges, Karolina Kucharova, Niraj C. Patel, Margaret Harr, Hakon Hakonarson, Elaine Zackai, Ian G. Cowell, Caroline A. Austin, Boris Hügle, Corinna Gebauer, Jianguo Zhang, Xun Xu, Jian Wang, Ben A. Croker, Kelly A. Frazer, Christopher D. Putnam, Hal M. Hoffman
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defe
Externí odkaz:
https://doaj.org/article/f68d775e267842bf9a3e97c19180cf33
Autor:
Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed in a consistent, transparent
Externí odkaz:
https://doaj.org/article/4429359a8e4b48758f162d30cbdaee3f
Autor:
Shazia Mahamdallie, Elise Ruark, Shawn Yost, Márton Münz, Anthony Renwick, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Next generation sequencing (NGS) is routinely used in clinical genetic testing. Quality management of NGS testing is essential to ensure performance is consistently and rigorously evaluated. Three primary metrics are used in NGS quality evaluation: d
Externí odkaz:
https://doaj.org/article/00fd17b000e54d5989a7f945d71407ce
Autor:
Márton Münz, Shazia Mahamdallie, Shawn Yost, Andrew Rimmer, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Elise Ruark, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Quality assurance and quality control are essential for robust next generation sequencing (NGS). Here we present CoverView, a fast, flexible, user-friendly quality evaluation tool for NGS data. CoverView processes mapped sequencing reads and user-spe
Externí odkaz:
https://doaj.org/article/8141b6cd896940048368273bd71160b4
Autor:
Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 2 (2017)
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a
Externí odkaz:
https://doaj.org/article/8dbb267d0f814abb8d03cfc6f3b5b2af
Autor:
Lei Bao, Karen Messer, Richard Schwab, Olivier Harismendy, Minya Pu, Brian Crain, Shawn Yost, Kelly A Frazer, Brinda Rana, Farnaz Hasteh, Anne Wallace, Barbara A Parker
Publikováno v:
PLoS ONE, Vol 10, Iss 11, p e0142487 (2015)
Synchronous tumors can be independent primary tumors or a primary-metastatic (clonal) pair, which may have clinical implications. Mutational profiling of tumor DNA is increasingly common in the clinic. We investigated whether mutational profiling can
Externí odkaz:
https://doaj.org/article/30ee3229ddb346b39baed06add9a1835
Autor:
Marijke P. Baltissen, Sandra Hanks, Eelco C. Tromer, Shawn Yost, Bas de Wolf, Geert J.P.L. Kops, Michiel Vermeulen, Philippe Piloquet, Bertrand Isidor, Ali Oghabian, Jolien J. E. van Hooff, Berend Snel, Esther C.H. Uijttewaal, Nazneen Rahman, Jens Verbeeren, Laura E van Rooijen, Lisa van Voorthuijsen, Maureen V. Akinyi, Mikko J. Frilander
Publikováno v:
EMBO Journal
EMBO Journal, 40(14), 1. Nature Publishing Group
EMBO Journal, 40(14). Nature Publishing Group
The EMBO Journal
EMBO Journal, 40(14), 1. Nature Publishing Group
EMBO Journal, 40(14). Nature Publishing Group
The EMBO Journal
Aneuploidy is the leading cause of miscarriage and congenital birth defects, and a hallmark of cancer. Despite this strong association with human disease, the genetic causes of aneuploidy remain largely unknown. Through exome sequencing of patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97d7b40146969ea51a965e5d52d5c292
https://dspace.library.uu.nl/handle/1874/414082
https://dspace.library.uu.nl/handle/1874/414082
Autor:
Anna Zachariou, Esther Uijttewaal, Shawn Yost, Richarda M. de Voer, Susan Picton, Bas de Wolf, Anna Elliott, Chiara Marcozzi, Sarah F. Smithson, Gunnar Houge, Elise Ruark, Sandra Hanks, Emma Ramsay, Harriet Wylie, Jonathon Pines, Sheila Seal, Nazneen Rahman, Matthew Clarke, Banafsheh Etemad, Geert J. P. L. Kops, Audrey Smith
Publikováno v:
Nature Genetics, 49, 7, pp. 1148-1151
Nature Genetics, 49, 1148-1151
Nature Genetics, 49(7), 1148-1151. Nature Publishing Group
Nature Genetics, 49, 1148-1151
Nature Genetics, 49(7), 1148-1151. Nature Publishing Group
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are features of mosa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6242b84b6ea9ef95284c06180fd1173b
https://doi.org/10.1038/ng.3883
https://doi.org/10.1038/ng.3883
Autor:
Susannah Brydges, Kelly A. Frazer, Boris Hügle, Xun Xu, Shawn Yost, Niraj C. Patel, Hakon Hakonarson, Dong Li, Ben A. Croker, Lori Broderick, Matthew D. McGeough, Corinna Gebauer, Caroline A. Austin, Jian Wang, Marisela Guaderrama, Jian-Guo Zhang, Margaret H. Harr, Laela M. Booshehri, Ian G. Cowell, Hal M. Hoffman, Christopher D. Putnam, Karolina Kucharova, Elaine H. Zackai
Publikováno v:
Nature Communications
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73899ebba2edf90c3ba92612ef84c19a
http://europepmc.org/articles/PMC6692411
http://europepmc.org/articles/PMC6692411
Autor:
Shazia, Mahamdallie, Shawn, Yost, Emma, Poyastro-Pearson, Esty, Holt, Anna, Zachariou, Sheila, Seal, Anna, Elliott, Matthew, Clarke, Margaret, Warren-Perry, Sandra, Hanks, John, Anderson, Simon, Bomken, Trevor, Cole, Roula, Farah, Rhoikos, Furtwaengler, Adam, Glaser, Richard, Grundy, James, Hayden, Steve, Lowis, Frédéric, Millot, James, Nicholson, Milind, Ronghe, Jane, Skeen, Denise, Williams, Daniel, Yeomanson, Elise, Ruark, Nazneen, Rahman
BACKGROUND: Wilms tumour is the most common childhood renal cancer and is genetically heterogeneous. While several Wilms tumour predisposition genes have been identified, there is strong evidence that further predisposition genes are likely to exist.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cdb18334ee19befe259ca75a00843b82
https://europepmc.org/articles/PMC6472290/
https://europepmc.org/articles/PMC6472290/