Results 221 to 230 of about 1,479,681 (326)

Tools and Techniques for Genome Annotation and Analysis

, 2014
Chris P Holt
openalex   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Isolation and genome annotation of Rowlf, a novel cluster EG bacteriophage with a purple acid phosphatase-like gene. [PDF]

Microbiol Resour Announc
Sullivan E, Mireill N, Allen AB, Larsen PR, Puentes Navarro D, Renn MP, Shappee TW, Sisk MM, Thomas AW, Trejo G, Bellew L, George L, Hepworth S, Webb S, Sadeghi S, Burger J, Githuku E, Shurley JF, Grinath AS, Thomas MA.   +19 more
europepmc   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Evaluation of strategies for evidence-driven genome annotation using long-read RNA-seq. [PDF]

Genome Res
Paniagua A, Agustín-García C, Pardo-Palacios FJ, Brown T, De Maria M, Denslow ND, Mazzoni CJ, Conesa A.   +7 more
europepmc   +1 more source

What Do Large Language Models Know About Materials?

Advanced Engineering Materials, EarlyView.
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer, Thomas Wallmersperger, Gianaurelio Cuniberti   +2 more
wiley   +1 more source

Genomic language models with k-mer tokenization strategies for plant genome annotation and regulatory element strength prediction. [PDF]

Plant Mol Biol
Suzuki S, Horie K, Amagasa T, Fukuda N.
europepmc   +1 more source

Genome annotation, comparative genomics and transcriptomic analysis of Eucalyptus cloeziana reveal insights into genome evolution and wood formation in Eucalyptus

Meng Li, Weilin Wu, Yi Mo, Xian-Chen Geng, Yuchong Fei, Jiajing Xu, Lei Dou, Yan‐Ping Cen, Jun Ni, Kuipeng Li, Yunpeng Cao, Zeng‐Fu Xu   +11 more
openalex   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation. [PDF]

Genome Res
Monzó C, Frankish A, Conesa A.
europepmc   +1 more source