Results 171 to 180 of about 4,886,903 (295)

snakemake-workflows/dna-seq-short-read-circle-map: dna-seq-short-read-circle-map v1.3.0

<h3>Features</h3> <ul> <li>introduce configurable results filtering, improve color scale (<a href="https://www.github.com/snakemake-workflows/dna-seq-short-read-circle-map/issues/20">#20</a>) (<a href="https://www ...
David Laehnemann
core   +1 more source

IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo

FEBS Open Bio, EarlyView.
To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
wiley   +1 more source

Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi^® Long-Read and Illumina Short-Read Sequencing. [PDF]

J Pers Med, 2023
Barthélémy D, Belmonte E, Pilla LD, Bardel C, Duport E, Gautier V, Payen L.   +6 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

snakemake-workflows/dna-seq-short-read-circle-map: dna-seq-short-read-circle-map v1.2.0

<h3>Features</h3> <ul> <li>add mem_mb resource annotation to bwa_mem (<a href="https://www.github.com/snakemake-workflows/dna-seq-short-read-circle-map/issues/8">#8</a>) (<a href="https://www.github.com/snakemake ...
David Laehnemann
core   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

dicast: a machine learning method for accurate structural variant detection from short-read sequencing data. [PDF]

Genome Biol
Alavi N, Moeinzadeh MH, Hertzberg J, Melo US, Al Raei LW, Infantino P, Ghareghani M, Savarese M, Mundlos S, Vingron M.   +9 more
europepmc   +1 more source

snakemake-workflows/dna-seq-short-read-circle-map: dna-seq-short-read-circle-map v1.2.4

<h3>Bug Fixes</h3> <ul> <li>extend upper domain limit for circle_score in circles.datavzrd.yaml (<a href="https://www.github.com/snakemake-workflows/dna-seq-short-read-circle-map/issues/18">#18</a>) (<a href="https:/
David Laehnemann
core   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

snakemake-workflows/dna-seq-short-read-circle-map: dna-seq-short-read-circle-map v1.2.2

<h3>Bug Fixes</h3> <ul> <li>increase mem_mb for circle_map_realign to <code>2.5 * input.size_mb</code> (<a href="https://www.github.com/snakemake-workflows/dna-seq-short-read-circle-map/issues/14">#14</a>) (
David Laehnemann
core   +1 more source