Results 151 to 160 of about 549,507 (300)

The impact of the human genome project on complex disease. [PDF]

Genes (Basel), 2014
Bailey JN, Pericak-Vance MA, Haines JL.
europepmc   +1 more source

15 year-, $3 billion gene project begins

, 1991
Human Genome Project at Stanford ...
Peninsula Times Tribune
core  

MagmaFlow: A desktop platform for artificial intelligence‐driven expression analysis

FEBS Open Bio, EarlyView.
MagmaFlow is a free, no‐code platform for gene expression analysis. It generates interactive volcano plots, links genes to literature, pathways, and diseases, prioritizes candidates using millions of publications, identifies affected biological processes, builds network diagrams, and exports publication‐ready figures and reports for macOS and Windows ...
Carlos E. Buss, Ao Li, Eduardo H. Gilglioni, Mayank Bansal, Sumeet Pal Singh, Latifa Bakiri, Alessandra K. Cardozo, Esteban N. Gurzov   +7 more
wiley   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 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

Has the Human Genome Project Delivered for Healthcare? [PDF]

Ann Med Surg (Lond), 2012
Sivam V.
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 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

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Unveiling the regulatory potential of the non-coding genome: Insights from the human genome project to precision medicine. [PDF]

Genes Dis
Ruffo P, Traynor BJ, Conforti FL.
europepmc   +1 more source