Results 131 to 140 of about 89,794 (315)

WGS data (hg38 DNA reads on chr17)

We used R9.4.1 reads from both whole genome shotgun (WGS) and single-cell whole genome amplification (scWGA) sequencing results for current events visualization. In theory, scWGA reads were generated from amplified DNA without 5mC signals and can thus be
GUO ZHIHAO (15476429)
core   +1 more source

WGS-mixture separation and WGS reaction test in a bench-scale multi-tubular membrane reactor

, 2011
For pre-combustion CO2 capture in the natural gas combined-cycle power plant, Pd me mbrane reactors are a promising option. A bench-scale multi-tube membrane reactor has been built in ECN and successfully demonstrated the operation for WGS- mixture ...
Jansen, D., J.A.Z. Pieterse, J.W. Dijkstra, J. Boon, Pieterse, J.A.Z., D. Jansen, Boon, J., Li, H., van den Brink, R.W., H. Li, R.W. van den Brink, Dijkstra, J.W.   +11 more
core   +1 more source

Gut Microbiota: A Reservoir for Extraintestinal Bacterial Infections in Febrile Term Infants

iLABMED, EarlyView.
Ran Wang, Renqiang Yu
wiley   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES

Scientific Reports
Whole genome sequencing (WGS) comprehensively detects DNA sequence variation, enabling assessment of genetic disorders. The primary aim of this study was to investigate the diagnostic utility of WGS for pediatric musculoskeletal disorders by comparing it
Awtum M. Brashear, Anxhela G. Gustafson, Andrew Quitadamo, Emily Evangelista, Daelyn Quinn, Samuel P. Strom, Holly L. Snyder, Mauro Longoni, Kamran Shazand   +8 more
doaj   +1 more source

MOLECULAR CHARACTERIZATION OF PLASMIDS CARRYING AMPC Β-LACTAMASES (AMPCs) AND EXTENDED-SPECTRUM Β-LACTAMASE (ESBLs) GENES USING HYBRID GENOME ASSEMBLY ANALYSIS. [PDF]

openTo improve the ambiguity that short-read data often gives for plasmids genetic elements characterization, the hybrid assembly of whole genome sequences (WGS) belonging to Escherichia coli strains obtained by using two different platforms, namely ...
ORTEGA RAMÍREZ, JAZMÍN ALEJANDRA
core  

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Thirty Years of Maintaining WGS 84 with GPS

Navigation
With the release of a new International Terrestrial Reference Frame (ITRF) in April 2022, the National Geospatial-Intelligence Agency (NGA) began the process of aligning the World Geodetic System 1984 Terrestrial Reference Frame (WGS 84 TRF) to the ...
William Konyk, Alex Smith, Bob Wong, Andrew Tollefson   +3 more
doaj   +1 more source

Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh, Lei Cheng Lit, Shen‐Yang Lim, Jia Wei Hor, Choey Yee Lew, Anis Nadhirah Khairul Anuar, Yi Wen Tay, Kirsten Black, Jia Lun Lim, Jannah Zulkefli, Kai Shi Lim, Hans Xing Ding, Shalini Padmanabhan, Azlina Ahmad‐Annuar, Eng King Tan, Dario R. Alessi, Esther Sammler, Ai Huey Tan   +17 more
wiley   +1 more source

Comparison of VNTR-based clustering with WGS.

, 2016
Comparison of VNTR-based clustering with WGS.
Timothy Brown (3191448), Simon R. Harris (124597), Francis Drobniewski (270248), Nicola Casali (3191451), Julian Parkhill (30393), Agnieszka Broda (2552638)   +5 more
core   +1 more source