#GenomicVariants
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jsantoyo.bsky.social
The Clinical Genomic Variation Landscape. #GenomicVariants
www.medrxiv.org/content/10.1...
November 9, 2025 at 9:31 AM
bits-bioinf.bsky.social
Sandro Gepiro Contaldo discusses how deep sequencing technologies and dedicated bioinformatics workflows can help us guide effective therapeutic decisions against opportunistic pathogens🧬

#Bioinformatics #InfectiousDiseases #GenomicVariants #DataScience #BITS2026
May 28, 2026 at 4:08 PM
jsantoyo.bsky.social
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...
September 4, 2025 at 8:31 AM
jsantoyo.bsky.social
Harnessing Artificial Intelligence for Genomic Variant Prediction: Advances, Challenges, and Future Directions. #GenomicVariants #VariantInterpretation #AI @gigascience.bsky.social
academic.oup.com/gigascience/...
January 18, 2026 at 10:15 AM
orson-johnson.bsky.social
Rare Disease Data Center vs AI 7 Hidden Limits

https://diagnosticpath.help/rare-disease-data-center-vs-ai-7-hidden-limits/?utm_source=bluesky&utm_medium=social
#rarediseasedatacenter #genomicvariants #precisiontherapy
May 24, 2026 at 11:54 AM
genseq.bsky.social
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
January 2, 2025 at 10:11 AM
axelvisel.bsky.social
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
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.
October 29, 2024 at 6:41 PM