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Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. #GenomicVariants #VariantInterpretation #AI @gigascience.bsky.social
academic.oup.com/gigascience/...

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The Clinical Genomic Variation Landscape. #GenomicVariants
www.medrxiv.org/content/10.1...

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Functional phenotyping of genomic variants using joint multiomic single-cell DNA–RNA sequencing. #GenomicVariants #SingleCell #scDNAseq #scRNAseq @natmethods.nature.com 🧬 🖥️
www.nature.com/articles/s41...

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This Teaching Thursday discover exactly what a genomic variant is?🧬 Find out below👇

#Genomics #DNA #PersonalisedMedicine #Innovation #genetics #geneticslearning #geneticseducation #genomicvariants #oncology #cardiology #hereditarydiseases #hereditarycancer #NGSsequencing #bioinformatics

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Comparison between alleles in transgenic enhancer assays. The table shows related experiments with Vista IDs and experimental conditions. The lower panel illustrates a side-by-side embryo comparison of reference and alternate alleles with gain-of-function in the limb tissue. Genotypes are labeled as tandem, and embryos from both reference and alternate experiments are displayed, highlighting distinct LacZ staining patterns.

Comparison between alleles in transgenic enhancer assays. The table shows related experiments with Vista IDs and experimental conditions. The lower panel illustrates a side-by-side embryo comparison of reference and alternate alleles with gain-of-function in the limb tissue. Genotypes are labeled as tandem, and embryos from both reference and alternate experiments are displayed, highlighting distinct LacZ staining patterns.

In terms of new features, a noteworthy addition are side-by-side Allelic comparisons! We’ve incorporated hundreds of manually curated comparisons for alleles, e.g., specific human pathogenic and synthetic variants. 7/10 #GenomicVariants

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