Results 121 to 130 of about 13,098 (176)

Long non-coding RNAs in humans: Classification, genomic organization and function

Non-coding RNA Research
Long non-coding RNAs (lncRNAs) regulate numerous biological functions in animals. Despite recent advances in lncRNA research, their structural and functional annotation and classification remain an ongoing challenge.
Barbara Chodurska, Tanja Kunej
doaj   +1 more source

IMGT/mAb-KG: the knowledge graph for therapeutic monoclonal antibodies

Frontiers in Immunology
IntroductionTherapeutic monoclonal antibodies (mAbs) have demonstrated promising outcomes in diverse clinical indications, including but not limited to graft rejection, cancer, and autoimmune diseases lately.Recognizing the crucial need for the ...
Gaoussou Sanou, Gaoussou Sanou, Taciana Manso, Konstantin Todorov, Véronique Giudicelli, Patrice Duroux, Sofia Kossida   +6 more
doaj   +1 more source

Towards OpenMath Content Dictionaries as Linked Data [PDF]

, 2010
"The term 'Linked Data' refers to a set of best practices for publishing and connecting structured data on the web". Linked Data make the Semantic Web work practically, which means that information can be retrieved without complicated lookup mechanisms ...
Lange, Christoph
core  

Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta

International Dental Journal
: Objectives: FAM83H is a critical gene implicated in amelogenesis imperfecta type IIIA (AI type IIIA), but its precise role in enamel formation remains poorly understood.
Tina Leban, Tanja Kunej
doaj   +1 more source

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX

Genetics in Medicine Open
Purpose: Delayed diagnosis of Mendelian disease prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is functional interpretation of noncoding variants that alter splicing.
Apoorva K. Iyengar, Xue Zou, Jian Dai, Rhodricia A. Francis, Alexias Safi, Karynne Patterson, Rebecca L. Koch, Shannon Clarke, M. Makenzie Beaman, Shruthi Mohan, Jessica X. Chong, Michael J. Bamshad, William H. Majoros, R. Catherine Rehder, Deeksha S. Bali, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Timothy E. Reddy   +18 more
doaj   +1 more source

Databases as Ontologies Part 2 - A Case Study with HGNC

This is the second of a two-part post about encoding databases as ontologies. In the first part, I gave a background on how I started working on this problem and the software stack I developed along the way. In this post, I explain the philosophy and design about how I encoded the HGNC (HUGO Gene Nomenclature Committee) database as an ontology using ...
openaire   +1 more source

P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

Genetics in Medicine Open, 2023
Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm   +37 more
doaj   +1 more source

TFutils : data structures for transcription factor bioinformatics [PDF]

, 2019
Carey, Vincent, Everaert, Celine, Glass, Kimberly, Gopaulakrishnan, Shweta, Pochet, Nathalie, Raby, Benjamin, Stubbs, Benjamin J   +6 more
core   +1 more source

Development of a comprehensive cardiovascular disease genetic risk assessment test. [PDF]

Genet Med Open
Amendola LM, Coffey AJ, Lowry J, Avecilla J, Malhotra A, Chawla A, Thacker S, Taylor JP, Rajkumar R, Brown CM, Golden-Grant K, Hejja R, Kalista T, Lee JA, Medrano P, Milewski B, Mullen F, Walker A, Huertas-Vazquez A, Longoni M, Robinson K, Perry DL, Hostin D, Ajay SS, Kesari A, Strom SP, Margulies E, Belmont J, Lanfear DE, Taft RJ.   +29 more
europepmc   +1 more source

Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery. [PDF]

Hum Mutat
Ward A, Mauleon R, Ooi CY, Rosic N.
europepmc   +1 more source