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Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-34724-w
Abstract: Functional genetic studies in honeybees have been limited by transformation tools that lead to a high rate of transposon integration into the germline of the queens. A high transformation rate is required to reduce screening…
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Keywords:
genetic transformation;
transformation rate;
transformation rates;
transformation ... See more keywords
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Published in 2020 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2020.1782195
Abstract: ABSTRACT Introduction Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk. Improved genetic methodology and understanding of phenotypes have improved diagnostic…
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Keywords:
skeletal muscle;
genetic diagnostics;
diagnostics skeletal;
muscle channelopathies ... See more keywords
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Published in 2025 at "BMC Genomics"
DOI: 10.1186/s12864-025-11443-x
Abstract: Genome-wide association studies (GWAS) are rapidly advancing due to the improved resolution and completeness provided by Telomere-to-Telomere (T2T) and pangenome assemblies. While recent advancements in GWAS methods have primarily focused on identifying genetic variants associated…
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Keywords:
ensemble learning;
quantitative traits;
variant identification;
improving genetic ... See more keywords
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Published in 2024 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-024-03370-z
Abstract: Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form.…
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Keywords:
testing pathways;
france;
transthyretin amyloidosis;
improving genetic ... See more keywords