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Il y a 3 jours · OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh. Its official home is omim.org.
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Gene Advanced Search Builder. Showing Current items. Use the...
- ALB
This gene encodes the most abundant protein in human blood....
- PRNP
The protein encoded by this gene is a membrane...
- Mt-cyb
cytochrome B gene mutation induces mitochondrial...
- MYH14
This gene encodes a member of the myosin superfamily. The...
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Il y a 4 jours · La RT-PCR sur prélèvement rhino-pharyngé est la méthode de référence pour le diagnostic et le dépistage de l’infection à Sars-CoV-2 mais les tests développés présentent de grande variabilité en termes de sensibilité et de délai de rendu des résultats.
- Sébastien Hantz
- 10.1016/S1773-035X(20)30313-0
- 2020
- Rev Francoph Lab. 2020 Nov; 2020(526): 48-56.
Il y a 4 jours · L’amplification du génome par RT-PCR. Le diagnostic d’infection au Sars-CoV-2 repose sur une recherche directe qualitative du génome viral par la technique de RT-PCR (figure 3 ). L’extraction de l’ARN à partir du prélèvement respiratoire précède l’étape de RT-PCR.
- Caroline Lefeuvre, Émilie Przyrowski, Véronique Apaire-Marchais
- 10.1016/j.actpha.2020.08.005
- 2020
- Actual Pharm. 2020 Oct; 59(599): 18-23.
Il y a 3 heures · The GIAB genomic stratification resource defines challenging regions in three commonly used human genome references, including the first complete human genome (CHM13). These help understand ...
Il y a 4 jours · As of January 2024, over 2700 genes have been curated (2420 gene-disease relationships for validity, 1557 genes for dosage sensitivity, and 447 gene-condition pairs for actionability), and 5161 unique variants have been classified for pathogenicity. New efforts are underway in somatic cancer, complex disease and pharmacogenomics, and a systematic approach to addressing justice, equity ...
Il y a 1 jour · The identification of gene regulatory networks (GRNs) is crucial for understanding cellular differentiation. Single-cell RNA sequencing data encode gene-level covariations at high resolution, yet data sparsity and high dimensionality hamper accurate and scalable GRN reconstruction. To overcome these challenges, we introduce NetID leveraging homogenous metacells while avoiding spurious gene ...
Il y a 5 jours · Transcriptomic data from the NCBI database was utilized to assess the HaGASA genes expression profile in different sunflower varieties under drought conditions. The HaGASA genes expression across ten sunflower genotypes under drought stress, revealed 14 differentially expressed HaGASA genes, implying their active role in the plant’s stress response. The expression in different organs ...
