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

Authors: 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

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

Subject Terms: Genome sequencing, Rare diseases, Structural variant, Splice site variant, Non-coding, Diagnostic yield, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

846 Myeloid reprogramming by JAK inhibition enhances checkpoint blockade immunotherapy

Authors: Veronika Bachanova, Jaroslav Zak, Isaraphorn Pratumchai, Brett S Marro, Kristi L Marquardt, Michael BA Oldstone, Judith A Varner, John R Teijaro

Source: Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2051-1426

Access URL: https://doaj.org/article/998a60fddf0248c3ab997e975e047f6b

Discovery of Small Molecules for the Reversal of T Cell Exhaustion

Authors: Brett S. Marro, Jaroslav Zak, Reza Beheshti Zavareh, John R. Teijaro, Luke L. Lairson, Michael B.A. Oldstone

Source: Cell Reports, Vol 29, Iss 10, Pp 3293-3302.e3 (2019)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124719314524; https://doaj.org/toc/2211-1247

Access URL: https://doaj.org/article/4816301eeaea4897a56c67107f5aa14d

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

Authors: Alistair T. Pagnamenta (Wellcome Centre for Human Genetics, University of Oxford), Carme Camps (Wellcome Centre for Human Genetics, University of Oxford), Edoardo Giacopuzzi (Wellcome Centre for Human Genetics, University of Oxford), John M. Taylor (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Mona Hashim (Wellcome Centre for Human Genetics, University of Oxford), Eduardo Calpena (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Pamela J. Kaisaki (Wellcome Centre for Human Genetics, University of Oxford), Akiko Hashimoto (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Jing Yu (Wellcome Centre for Human Genetics, University of Oxford), Edward Sanders (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Ron Schwessinger (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Jim R. Hughes (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Gerton Lunter (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Helene Dreau (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Matteo Ferla (Wellcome Centre for Human Genetics, University of Oxford), Lukas Lange (Wellcome Centre for Human Genetics, University of Oxford), Yesim Kesim (Wellcome Centre for Human Genetics, University of Oxford), Vassilis Ragoussis (Wellcome Centre for Human Genetics, University of Oxford), Dimitrios V. Vavoulis (Wellcome Centre for Human Genetics, University of Oxford), Holger Allroggen (Neurosciences Department, UHCW NHS Trust), Olaf Ansorge (Nuffield Department of Clinical Neurosciences, University of Oxford), Christian Babbs (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Siddharth Banka (Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester), Benito Baños-Piñero (Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital), David Beeson (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Tal Ben-Ami (Pediatric Hematology-Oncology Unit, Kaplan Medical Center), David L. Bennett (Nuffield Department of Clinical Neurosciences, University of Oxford), Celeste Bento (Hematology Department, Hospitais da Universidade de Coimbra), Edward Blair (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Charlotte Brasch-Andersen (Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark), Katherine R. Bull (Wellcome Centre for Human Genetics, University of Oxford), Holger Cario (Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm), Deirdre Cilliers (Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust), Valerio Conti (Neuroscience Department, Meyer Children’s Hospital IRCCS), E. Graham Davies (Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research), Fatima Dhalla (Department of Paediatrics, Institute of Developmental and Regenerative Medicine, IMS-Tetsuya Nakamura Building), Beatriz Diez Dacal (Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital), Yin Dong (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), James E. Dunford (Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre), Renzo Guerrini (Neuroscience Department, Meyer Children’s Hospital IRCCS), Adrian L. Harris (Department of Oncology, University of Oxford), Jane Hartley (Liver Unit, Birmingham Women’s & Children’s Hospital and University of Birmingham), Georg Hollander (Department of Paediatrics, University of Oxford, Level 2, Children’s Hospital, John Radcliffe Hospital), Kassim Javaid (Oxford NIHR Musculoskeletal BRC and Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Nuffield Orthopaedic Centre), Maureen Kane (Department of Pharmaceutical Sciences, School of Pharmacy, University of Maryland), Deirdre Kelly (Liver Unit, Birmingham Women’s & Children’s Hospital and University of Birmingham), Dominic Kelly (Children’s Hospital, OUH NHS Foundation Trust, NIHR Oxford BRC), Samantha J. L. Knight (Wellcome Centre for Human Genetics, University of Oxford), Alexandra Y. Kreins (Department of Immunology, Great Ormond Street Hospital for Children NHS Trust and UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research), Erika M. Kvikstad (Wellcome Centre for Human Genetics, University of Oxford), Craig B. Langman (Feinberg School of Medicine, Northwestern University), Tracy Lester (Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital), Kate E. Lines (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Simon R. Lord (Early Phase Clinical Trials Unit, Department of Oncology, University of Oxford, Cancer and Haematology Centre, Level 2 Administration Area, Churchill Hospital), Xin Lu (Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford), Sahar Mansour (St George’s University Hospitals NHS Foundation Trust), Adnan Manzur (MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UK), Reza Maroofian (Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, UK), Brian Marsden (Nuffield Department of Medicine, Kennedy Institute, University of Oxford), Joanne Mason (Yourgene Health Headquarters), Simon J. McGowan (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Davide Mei (Neuroscience Department, Meyer Children’s Hospital IRCCS), Hana Mlcochova (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Yoshiko Murakami (Research Institute for Microbial Diseases, Osaka University), Andrea H. Németh (Nuffield Department of Clinical Neurosciences, University of Oxford), Steven Okoli (Imperial College NHS Trust, Department of Haematology, Hammersmith Hospital), Elizabeth Ormondroyd (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Lilian Bomme Ousager (Department of Clinical Genetics, Odense University Hospital and Department of Clinical Research, University of Southern Denmark), Jacqueline Palace (Nuffield Department of Clinical Neurosciences, University of Oxford), Smita Y. Patel (Clinical Immunology, John Radcliffe Hospital), Melissa M. Pentony (Wellcome Centre for Human Genetics, University of Oxford), Chris Pugh (Nuffield Department of Medicine, University of Oxford), Aboulfazl Rad (Department of Otolaryngology–Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University), Archana Ramesh (Wellcome Centre for Human Genetics, University of Oxford), Simone G. Riva (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Irene Roberts (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Noémi Roy (Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Level 4, Haematology, John Radcliffe Hospital), Outi Salminen (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Kyleen D. Schilling (Ann & Robert H. Lurie Children’s Hospital of Chicago), Caroline Scott (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Arjune Sen (Nuffield Department of Clinical Neurosciences, University of Oxford), Conrad Smith (Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital), Mark Stevenson (University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital), Rajesh V. Thakker (University of Oxford, Academic Endocrine Unit, OCDEM, Churchill Hospital), Stephen R. F. Twigg (MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital), Holm H. Uhlig (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Richard van Wijk (UMC Utrecht), Barbara Vona (Department of Otolaryngology–Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University), Steven Wall (Oxford Craniofacial Unit, John Radcliffe Hospital), Jing Wang (Nuffield Department of Clinical Neurosciences, University of Oxford), Hugh Watkins (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Jaroslav Zak (Nuffield Department of Clinical Medicine, Ludwig Institute for Cancer Research, University of Oxford), Anna H. Schuh (Department of Oncology, Oxford Molecular Diagnostics Centre, University of Oxford, Level 4, John Radcliffe Hospital), Usha Kini (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Andrew O. M. Wilkie (NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust), Niko Popitsch (Department of Biochemistry and Cell Biology, Max Perutz Labs, University of Vienna), Jenny C. Taylor (Wellcome Centre for Human Genetics, University of Oxford)

Availability: http://data.europeana.eu/aggregation/europeana/1300/https___phaidra_univie_ac_at_o_2068547

ASPP2 links the apical lateral polarity complex to the regulation of YAP activity in epithelial cells.

Authors: Christophe Royer, Sofia Koch, Xiao Qin, Jaroslav Zak, Ludovico Buti, Ewa Dudziec, Shan Zhong, Indrika Ratnayaka, Shankar Srinivas, Xin Lu

Source: PLoS ONE, Vol 9, Iss 10, p e111384 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4216074?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/626e72d9eb9e4535a81f91c3a4b84134

Combined Effect of Superabsorbent Polymers and Cellulose Fibers on Functional Performance of Plasters

Authors: Jan Fořt, Jiří Šál, Jaroslav Žák

Source: Energies, Vol 14, Iss 12, p 3679 (2021)

Subject Terms: cellulose fiber, superabsorbent polymer, synergy, reinforcement, mechanical performance, moisture buffering, Technology

File Description: electronic resource

Relation: https://www.mdpi.com/1996-1073/14/12/3679; https://doaj.org/toc/1996-1073

Access URL: https://doaj.org/article/dc54d8740ada49a097f4e97eff99dffa

Biochar for Vertical Greenery Systems

Authors: Michal Kraus, Kateřina Žáková, Jaroslav Žák

Source: Energies, Vol 13, Iss 23, p 6320 (2020)

Subject Terms: vertical greenery systems, biochar, DEA, effective solutions, Technology

File Description: electronic resource

Relation: https://www.mdpi.com/1996-1073/13/23/6320; https://doaj.org/toc/1996-1073

Access URL: https://doaj.org/article/51e6c07afcf8441c88f98f75603ba618

Data Envelopment Analysis for Technological, Environmental and Economic Analysis of Motorway Underpasses

Authors: Kateřina Myšková, Jaroslav Žák

Source: Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis, Vol 64, Iss 1, Pp 307-314 (2016)

Subject Terms: motorway bridges, wildlife migration, data envelopment analysis, underpasses, total costs, migration potential, Agriculture, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://acta.mendelu.cz/64/1/0307/; https://doaj.org/toc/1211-8516; https://doaj.org/toc/2464-8310

Access URL: https://doaj.org/article/10476012545b438fb4f50ec62d1481f6

Reliability Analysis of Temperature Influence on Stresses in Rigid Pavement Made from Recycled Materials

Authors: Aleš Florian, Lenka Ševelová, Jaroslav Žák

Source: Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis, Vol 64, Iss 2, Pp 423-432 (2016)

Subject Terms: concrete, FEM, pavement, simulation, sensitivity, statistics, Agriculture, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://acta.mendelu.cz/64/2/0423/; https://doaj.org/toc/1211-8516; https://doaj.org/toc/2464-8310

Access URL: https://doaj.org/article/f1b6f8b612cf40fda693727d434e9077

Influence of Environmental Humidity on Mechanical Properties of Natural and Recycled Unbound Materials

Authors: Aleš Florian, Lenka Ševelová, Jaroslav Žák

Source: Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis, Vol 63, Iss 2, Pp 405-409 (2015)

Subject Terms: low volume road, pavement, triaxial test, Young modulus, unbound materials, Agriculture, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://acta.mendelu.cz/63/2/0405/; https://doaj.org/toc/1211-8516; https://doaj.org/toc/2464-8310

Access URL: https://doaj.org/article/ec76885e8204483b9c787f2d2fb842da

Computational Prediction of Susceptibility to Biofilms Growth: Two-Dimensional Analysis of Critical Construction Details

Authors: Václav Kočí, Jan Kočí, Jiří Maděra, Jaroslav Žák, Robert Černý

Source: Energies, Vol 13, Iss 2, p 293 (2020)

Subject Terms: biofilms growth, computational modeling, hygrothermal patterns, brick masonry, interior thermal insulation, climatic data, mineral wool, wood fiber board, Technology

File Description: electronic resource

Relation: https://www.mdpi.com/1996-1073/13/2/293; https://doaj.org/toc/1996-1073

Access URL: https://doaj.org/article/2c8f0c59b88446cd8cf28ddffb3063c9

Green Technology for Motorway Overpasses.

Authors: Jaroslav Zak

Source: IOP Conference Series: Materials Science & Engineering; Sep2019, Vol. 603 Issue 5, p1-1, 1p

Technological and Economical - Ecological Concept in the Construction of Line Structures.

Authors: Jaroslav Zak

Source: IOP Conference Series: Materials Science & Engineering; Feb2019, Vol. 471 Issue 6, p1-1, 1p

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