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

Pandemic Perspectives: Reflections on the Post-Covid World: Introduction

Autor: Sadegh Attari, David Christie, Hanan Fara, Niall Gallen, Richard Kendall, Liam J. L. Knight, Ronan Love

Publikováno v: Ubiquity Proceedings, Pp vi-x (2022)

This publication reflects papers from the first conference hosted by the Pandemic Perspectives group, an interdisciplinary network of scholars interested in Covid-19’s continued significance, and its manifold long-term consequences. Optimistically

Externí odkaz: https://doaj.org/article/2a18f043de084d37aee362f564308118

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Autor: Adrian M. Shields, Alistair T. Pagnamenta, Andrew J. Pollard, OxClinWGS, Jenny C. Taylor, Holger Allroggen, Smita Y. Patel, Samantha J. L. Knight, Niko Popitsch, Carme Camps, Melissa M. Pentony, Erika M. Kvikstad, Lukas Lange, Mona Hashim, Steve Harris, Mark Tilley, Dimitris Vavoulis, Pamela Kaisaki, Vassilis Ragoussis, Matteo Feral

Publikováno v: Frontiers in Immunology, Vol 10 (2019)

Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological

Externí odkaz: https://doaj.org/article/b00ed76bf8364c97a638ff44d5f2c49e

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Autor: Marie-France Portnoï, Alexandre Reymond, Sandra Chantot-Bastaraud, Giuliana Giannuzzi, Eleonora Porcu, Yvan Herenger, Flavie Ader, Tony Yammine, Patrick Edery, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Laurence Faivre, Alice Masurel-Paulet, Nathalie Marle, Kévin Uguen, Claire Bardel, Julia Lauer Zillhardt, Alistair T. Pagnamenta, Nicolas Chatron, Jenny C. Taylor, Stéphanie Valence, Andrew O.M. Wilkie, Solveig Heide, Emilie Chopin, Fabienne Prieur, Nora Chelloug, Christèle Dubourg, Marlène Rio, Eduardo Calpena, Zohra-Lydia Bellil, Arthur Sorlin, Laurence Lohmann, Sylvie Jaillard, Alexandra Afenjar, Corinne Metay, Jean-Pierre Siffroi, Damien Sanlaville, Marie-Pierre Cordier, Boris Keren, Françoise Girard, Caroline Schluth-Bolard, Joris Andrieux, Samantha J. L. Knight, Reza Maroofian, James Lespinasse, Michèle Mathieu-Dramard, Patrick Callier

The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events. Constitutional cases have typically been reported individually preventing i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fbb06baaefddfcce5f3b63fb41a59581
https://doi.org/10.1101/2020.07.17.206771

Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia

Autor: Dimitrios V Vavoulis, Jenny Klintman, Toby A. Eyre, Kate Ridout, Robert Månsson, Samantha J. L. Knight, Anna Schuh, Helene Dreau, Maite Cabes, Jenny C. Taylor, Niamh Appleby, Pauline Robbe, Niko Popitsch, Laura Lopez Pascua, Elias Campo, Mats Ehinger, Iñaki Martin-Subero, Basile Stamatopoulos, Davide Rossi

Publikováno v: Blood, 137 (20
Blood

The transformation of chronic lymphocytic leukemia (CLL) to high-grade B-cell lymphoma is known as Richter syndrome (RS), a rare event with dismal prognosis. In this study, we conducted whole-genome sequencing (WGS) of paired circulating CLL (PB-CLL)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c09dcec1ef9f5887f2d5a1cecdfe3387
https://pubmed.ncbi.nlm.nih.gov/34806797