Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Autor: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l

Externí odkaz: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

Extending the application potential of capillary electrophoresis/frontal analysis for drug‐plasma protein studies by combining it with mass spectrometry detection

Autor: Hana Mlčochová, Lenka Michalcová, Zdeněk Glatz

Publikováno v: ELECTROPHORESIS. 43:955-963

CE/frontal analysis (CE/FA) is probably one of the most frequently used modes of CE for studying affinity interactions. It is typically performed with classic UV-Vis detection that suffers from low concentration sensitivity. To overcome this limitati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c0b7d92750d61b02a7105b0db37bb0
https://doi.org/10.1002/elps.202100301

Epithelial-mesenchymal transition-associated microRNA/mRNA signature is linked to metastasis and prognosis in clear-cell renal cell carcinoma

Autor: Klaus Jung, Anja Rabien, Jan Dolezel, Lenka Radová, Michal Staník, Martina Redova-Lojova, Hana Mlčochová, Marek Svoboda, Ondrej Slaby, Ergin Kilic, Robert Iliev, Pavel Fabian, Rostislav Vyzula, Tana Machackova, Katerina Slaba, Alexandr Poprach

Publikováno v: Scientific Reports.

Clear-cell renal cell carcinomas (ccRCCs) are genetically heterogeneous tumors presenting diverse clinical courses. Epithelial-mesenchymal transition (EMT) is a crucial process involved in initiation of metastatic cascade. The aim of our study was to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caa43971181d86b7b1945f1a8bfeb225

Diňáci Lenka Rožnovská, Hana Mlčochová [elektronicky zdroj]

Autor: Rožnovská, Lenka

Externí odkaz: Kolekce e-knih KNAV (Pristup k plnemu textu dostupny po prihlaseni prostrednictvim EduID. Full text available after EduID login.)

Případy detektiva Kláska a opičáka Jojíka Lenka Rožnovská, Hana Mlčochová [elektronicky zdroj]

Autor: Rožnovská, Lenka

Externí odkaz: Kolekce e-knih KNAV (Pristup k plnemu textu dostupny po prihlaseni prostrednictvim EduID. Full text available after EduID login.)