Results 71 to 80 of about 1,974,376 (233)

Structural impact of synonymous mutations in six SARS-CoV-2 Variants of Concern.

PLoS ONE
SARS-CoV-2 continues to spread and infect people worldwide. While most effort into characterizing variants of this virus have focused on non-synonymous changes, accumulation of synonymous mutations in different viral variants has also occurred.
Alison Ziesel, Hosna Jabbari
doaj   +1 more source

Summary of non-synonymous and LoF variants in the LEP gene deposited in gnomAD.

, 2022
Summary of non-synonymous and LoF variants in the LEP gene deposited in gnomAD.
Pamela Fischer-Posovszky (219549), Johannes Hebebrand (170268), Yiran Zheng (2562298), Anke Hinney (87545), Martin Wabitsch (132974), Luisa Sophie Rajcsanyi (13822568)   +5 more
core   +1 more source

Ontology‐Aligned Structuring and Reuse of Multimodal Materials Data and Workflows Toward Automatic Reproduction

Advanced Engineering Materials, EarlyView.
Reproduction of stacking fault energy calculations from literature with a semi‐automated large language model‐assisted extraction procedure: extraction of simulation protocol, atomistic structures, computational parameters, and reported results, ontology alignment, knowledge graph construction and, finally, recomputation forvalidation.
Sepideh Baghaee Ravari, Abril Azocar Guzman, Sarath Menon, Stefan Sandfeld, Tilmann Hickel, Markus Stricker   +5 more
wiley   +1 more source

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Molecular Genetics & Genomic Medicine, 2021
Background Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2.
Na Ma, Zhenhua Zhu, Jing Liu, Ying Peng, Xiaomeng Zhao, Weiling Tang, Zhengjun Jia, Hui Xi, Bodi Gao, Hua Wang, Juan Du   +10 more
doaj   +1 more source

Non-synonymous C. albicans single nucleotide variants.

, 2013
Non-synonymous C. albicans single nucleotide variants.
Leah E. Cowen (108693), Ron Ammar (33236), Corey Nislow (42521), Dax Torti (9229), Jessica A. Hill (163956)   +4 more
core   +1 more source

Detected genes associated with the phenotypes of interest and their respective rare non-synonymous variants.

, 2022
Detected genes associated with the phenotypes of interest and their respective rare non-synonymous variants.
João Pereira Duprat (12009034), Giovana Tardin Torrezan (9075146), Luciana Facure Moredo (10689512), Felipe Fidalgo (642532), Bruna Durães de Figueiredo Barros (12009031), Dirce Maria Carraro (6830156), Bianca Costa Soares de Sá (12009028), Renan Valieris (548359), Sandro J. de Souza (9578582), Ana Cristina Victorino Krepischi (5453723)   +9 more
core   +1 more source

DigiChrom: A Domain Ontology for Semantic Representation of Trivalent Chromium Platings and Its Large Language Model‐Based Alignment With Multiple Mid‐Level Ontologies

Advanced Engineering Materials, EarlyView.
Digitalizing electroplating requires both domain knowledge and interoperability. This work introduces PlatOn, a domain ontology for trivalent chromium plating and coating characterization, and a hybrid pipeline that aligns it to a mid‐level reference ontology by combining eight similarity metrics with language model reasoning. Expert‐validated mappings
Janik Harter, Elena Garcia Trelles, Christoph Schweizer, Thomas Seifert, Christoph Baumer, Mahmoud Elkady, Katja Feige, Daniel Grimme, Edgar Hoffmann, Andreas Waibel, Anke Walter   +10 more
wiley   +1 more source

Variance explained by whole genome sequence variants in coding and regulatory genome annotations for six dairy traits

BMC Genomics, 2018
Background There are an exceedingly large number of sequence variants discovered through whole genome sequencing in most populations, including cattle. Deciphering which of these affect complex traits is a major challenge.
Lambros T. Koufariotis, Yi-Ping Phoebe Chen, Paul Stothard, Ben J. Hayes   +3 more
doaj   +1 more source

Assessment of genetic variation in Apis mellifera jemenitica (Hymenoptera: Apidae) based on mitochondrial Cytochrome Oxidase Subunit II and III.

PLoS ONE, 2022
Morphometric and genetic characterization of many Apis mellifera subspecies are well-documented. A. m. jemenetica occurs naturally in Africa and Asia.
Yehya Alattal, Ahmad Algamdi
doaj   +1 more source

Non-synonymous S. cerevisiae single nucleotide variants.

, 2013
Non-synonymous S. cerevisiae single nucleotide variants.
Leah E. Cowen (108693), Ron Ammar (33236), Corey Nislow (42521), Dax Torti (9229), Jessica A. Hill (163956)   +4 more
core   +1 more source