Results 191 to 200 of about 1,156,580 (337)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Ethics choices during the Human Genome Project reflected their policy world, not ours. [PDF]

Cell Genom
LoTempio JE, Donohue CR, Moreno JD, Cook-Deegan R.   +3 more
europepmc   +1 more source

The Human Genome Project changed everything. [PDF]

Nat Rev Genet, 2020
Gibbs RA.
europepmc   +1 more source

The use of biomedical big data for economic analyses of genome sequencing in rare genetic diseases: a case study from the 100,000 Genomes Project

, 2021
Patrick Fahr
openalex   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project. [PDF]

Brief Bioinform
Xi AMC, Yeung DLH, Ma W, Ying D, Tong AHY, Or D, Hue SPY, Project HKG, Chu AT, Chung BH.   +9 more
europepmc   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

The 1% gift to humanity: The Human Genome Project II. [PDF]

Cell Res
Liu W, Li Y, Patrinos GP, Xu S, Thong MK, Chen Z, Crawley FP, Li L, Ekmekci PE, Drmanac R, Cheong W, Benamouzig R, Nguyen Q, Volchkov P, Reichardt JKV, Carninci P, Majumder P, Jin X, Church G, Wang J, Xu X.   +20 more
europepmc   +1 more source

The Human Genome Project [PDF]

Journal of the Royal Society of Medicine, 2005
openaire   +2 more sources

Project Psyche: reference genomes for all Lepidoptera in Europe

Charlotte J Wright, Niklas Wahlberg, Roger Vila, Marko Mutanen, Pável Matos‐Maraví, Kay Lucek, Irena Klečková, Leonardo Dapporto, Vlad Dincă, Claudia Bruschini, Christopher W. Wheat, Marta Vila, Laura Torrado‐Blanco, Valentina Todisco, Michal Rindoš, Petr Nguyen, Peter O. Mulhair, Stefaniya Kamenova, Marcus Hicks, Marianne Espeland, Ines A. Drinnenberg, Mónica Doblas-Bajo, Richard I. Bailey, Mark Blaxter, Joana I. Meier, Giada Zucco, Milica Zlatkovic, Marcin Wiorek, Martin Wiemers, Claudia C. Weber, Pavel Vrba, Vladimir Visacki, Jose Vicente Pérez Santa Rita, Mikko Vallinmäki, Başak Ulaşlı, Eric Toro-Delgado, Gerhard G. Thallinger, Alena Suchackova Bartonova, Jenny Stewart, Clara Spilker, Loukia Spilani, Dominik Schmitz, Benjamin Schattanek-Wiesmar, Petra Schattanek-Wiesmair, Stefano Scalercio, Gábor Sramkó Sramkó, Dejan V. Stojanovic, Cibele G. Sotero-Caio, Jadranka Rota, Mar Repullés, Łukasz Przybyłowicz, Pavel Potocký, Jaakko Pohjoismäki, Erki Õunap, Antonio S. Ortiz, Rayner Nunez, Vazrick Nazari, Ana Nahirnić-Beshkova, Tatiana Moreira, Marco Meyer, Mattia Menchetti, Duane McKenna, Valéria Marques, Konrad Lohse, Lars Littmann, Daniel Linke, Josep Lancho, Sara La Cava, Eva Kriegova, Emre Keskin, Stefaniya Kamenova, Mathieu Joron, Anna K. Hundsdoerfer, Noémie Hévin, Jérémy Gauthier, Madeleine Fabusova, Zdenek F. Fric, Paula Escuer, Brent Emerson, Marianne Elias, Lora Downes, Mónica Doblas-Bajo, Laurence Despres, Thomas Decroly, Camille Cornet, Tinatin Chkhartishvili, Richard Challis, Jon Bridle, Bastien Boussau, Adele Bordoni, Jesper Boman, Stoyan Beshkov, Federica Federica Bertocchini, Saurav Baral, Joaquín Baixeras, Dominic Absolon   +95 more
openalex   +1 more source