#geneticVariants
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jsantoyo.bsky.social
igv-reports: Embedding interactive genomic visualizations in HTML reports to aid variant review. #IGV #InteractiveVisualizationss #GeneticVariants #VariantReview @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
November 9, 2025 at 4:00 PM
jsantoyo.bsky.social
The Platinum Pedigree: a long-read benchmark for genetic variants. #HumanGenome #ReferenceGenome #PlatinumPedigree #LongReads #Benchmarking #GeneticVariants @natmethods.nature.com 🧬 🖥️
www.nature.com/articles/s41...
August 4, 2025 at 6:39 PM
jsantoyo.bsky.social
Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics
bmcgenomics.biomedcentral.com/articles/10....
October 12, 2025 at 8:31 AM
jsantoyo.bsky.social
Analysis-ready VCF at Biobank scale using Zarr. #VCF #Zarr #GeneticVariants #Genomics #Bioinformatics @gigascience.bsky.social‬ 🧬 🖥️
academic.oup.com/gigascience/...
June 2, 2025 at 4:03 PM
jsantoyo.bsky.social
Ultra-sensitive DNA sequencing maps mutations that precede cancer. #DNAseq #Sequencing #GeneticVariants #CancerMutations #Genomics @nature.com 🧬 🧪
www.nature.com/articles/d41...
October 14, 2025 at 5:05 PM
jsantoyo.bsky.social
A multi-tissue atlas of genetic regulatory effects in sheep. #SheepGenome #GeneticRegulation #GeneticVariants #Genomics #FarmGTEX #SheepGTEX @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
November 8, 2025 at 8:32 AM
castltrastondrs.medsky.network
#Medsky🧪 #IDsky #Immunosky #pedsky #publichealth
More evidences and studies have found that #geneticvariants appear to play a significant role in influencing the distinct metabolic pathways observed in Paediatric #MultisystemInflammatorySyndrome (MIS-C) and severe #COVID.
August 18, 2025 at 1:56 PM
varianteffect.bsky.social
Coming up in September!
➡️Christina Kajba @ckajba.bsky.social & Michael Herger @michaelherger.bsky.social — pooled prime editing screens in haploid human cells
➡️Jon Acosta — multiplexed in vivo base editing screens
#GeneticVariants #PrimeEditing
ℹ️https://www.varianteffect.org/seminar-series/
August 7, 2025 at 2:26 PM
jsantoyo.bsky.social
GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants. #GeneticVariants #VariantExploration #DataVisualization #GUI #BMCbioinformatics 🧬 🖥️
bmcbioinformatics.biomedcentral.com/articles/10....
September 1, 2025 at 7:05 PM
jsantoyo.bsky.social
Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation. #HumanGenetics #GeneticVariants #DeNovoMutations @narjournal.bsky.social 🧬 🖥️
academic.oup.com/nar/advance-...
October 15, 2025 at 8:31 AM
jsantoyo.bsky.social
Using large-scale population-based data to improve disease risk assessment of clinical variants. #GeneticVariants #ClinVar #DiseaseRiskVariants #Genomics @natgenet.nature.com‬
www.nature.com/articles/s41...
June 25, 2025 at 7:05 PM
jsantoyo.bsky.social
AdaGenes: A streaming processor for high-throughput annotation and filtering of sequence variant data. #GeneticVariants #VariantFiltering #VariantAnnotation #VCFs #Genomics #Bioinformatics @biorxiv-bioinfo.bsky.social‬ 🧬 🖥️
www.biorxiv.org/content/10.1...
June 28, 2025 at 6:06 PM
jsantoyo.bsky.social
Introducing the Y-chromosomal Ancestral-like Reference Sequence—Improving the Capture of Human Evolutionary Information. #Ychromosome #EvolutionaryInformation #GeneticVariants #HumanGenome @molbioevol.bsky.social 🧬 🖥️
academic.oup.com/mbe/article/...
October 3, 2025 at 10:30 AM
jsantoyo.bsky.social
SpatialSNV: A novel method for identifying and analyzing spatially resolved SNVs in tumor microenvironments. #SpatilaTranstriptomics #SNVs #TumorSamples #GeneticVariants #Genomics #Bioinformatics @gigascience.bsky.social‬ 🧬 🖥️
academic.oup.com/gigascience/...
June 21, 2025 at 7:05 PM
jsantoyo.bsky.social
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript. #T2T #ReferenceGenome #GeneticVariants #VariantAssessment #HQreferenceGenomes #NPJgenomicMedicine 🧬 🧪 🖥️
www.nature.com/articles/s41...
August 9, 2025 at 9:15 AM
jsantoyo.bsky.social
ClinVar: updates to support classifications of both germline and somatic variants. #ClinVar #GeneticVariants #NAR 🧬 🖥️
academic.oup.com/nar/advance-...
ClinVar: updates to support classifications of both germline and somatic variants
Abstract. ClinVar (www.ncbi.nlm.nih.gov/clinvar/) is a free, public database of human genetic variants and their relationships to disease, with >3 milli
academic.oup.com
November 24, 2024 at 10:19 PM
jsantoyo.bsky.social
Transcriptomic signatures of rare variant impacts across sex and the X-chromosome. #RareVariants #GeneticVariants #Xchromosome #Genomics @hggadvances.bsky.social‬
www.cell.com/hgg-advances...
www.cell.com
June 6, 2025 at 1:49 PM
jsantoyo.bsky.social
Pangenome-based identification of cryptic pathogenic variants in undiagnosed rare disease patients. #GeneticVariants #PathogenicVariants #Pangenomes #LongRead #Sequencing @medrxivpreprint.bsky.social 🧬 🖥️
www.medrxiv.org/content/10.1...
September 15, 2025 at 10:30 AM
scienceblog.com
Researchers from @BUSPH and @UTHealthHouston have identified 17 genetic variants associated with Alzheimer's disease risk, bringing us closer to understanding and treating this neurodegenerative condition. #AlzheimersResearch #GeneticVariants
Study Identifies Genetic Variants Linked to Alzheimer's Disease Risk
A recent study has discovered several genetic variants that may contribute to the risk of developing Alzheimer's disease. The findings, published in the
scienceblog.com
March 21, 2024 at 2:19 PM
jsantoyo.bsky.social
VAREANT: a bioinformatics application for gene variant reduction and annotation. #GeneticVariants #VariantAnnotation #Bioinformatics #Genomics @bioinfoadv.bsky.social 🧬 🖥️
academic.oup.com/bioinformati...
VAREANT: a bioinformatics application for gene variant reduction and annotation
AbstractMotivation. The analysis of high-quality genomic variant data may offer a more complete understanding of the human genome, enabling researchers to
academic.oup.com
January 6, 2025 at 8:57 PM
castltrastondrs.medsky.network
#MedSky🧪 #IDsky #immunosky #pedsky Recap the study @TheCrick & @imperialcollege via @jexpmed.bsky.social
been able to pinpoint rare #geneticvariants likely driving the systemic inflammation & children more susceptible to MIS-C.

www.imperial.ac.uk/news/258534/...

rupress.org/jem/article/...
Genetic clues explain why children develop rare post-COVID condition | Imperial News | Imperial College London
An Imperial-led study has highlighted how rare variants of a gene regulating the gut lining may increase the risk of MIS-C by up to four times.
www.imperial.ac.uk
November 28, 2024 at 3:55 PM
jsantoyo.bsky.social
Boosting GPT Models for Genomics Analysis: Generating Trusted Genetic Variant Annotations and Interpretations through RAG and fine-tuning. #GPT #LLMs #Genomics #GeneticVariants @bioinfoadv.bsky.social 🧬 🖥️
academic.oup.com/bioinformati...
Boosting GPT Models for Genomics Analysis: Generating Trusted Genetic Variant Annotations and Interpretations through RAG and fine-tuning
AbstractMotivation. Large language models (LLMs) have acquired a remarkable level of knowledge through their initial training. However, they lack expertise
academic.oup.com
February 10, 2025 at 10:44 PM
plosbiology.org
#Lipidomic profiling has linked plasma #EtherLipids with #obesity. This study analyzes a set of biologically informed lipid ratios to reveal obesity-related alterations in enzymatic activity & #GeneticVariants not apparent in traditional lipidomic analyses @plosbiology.org 🧪 plos.io/41vdrO5
Summary figure details changes in ether lipid metabolism in obesity as indicated by the lipid ratios, liver micro-array data, and GWAS analysis. Coloured text depicts potential changes in enzymatic activity (green: increase; red: decrease), identified through linear regression analysis, adjusting for age and sex, of 82 lipid ratios and waist circumference in the AusDiab cohort (n = 10,399). Lipid ratios were log2 transformed, mean-centered and scaled to standard deviation. p-values were corrected for multiple comparisons using the false discovery rate method of Benjamini and Hochberg. Scatter plots depict consolidated liver micro-array data of male mice across 74 matched strains (n = 2−3 per strain) after either a high-fat/high-sugar (navy, n = 152) or chow (blue, n = 222) diet for eight weeks.
September 1, 2025 at 1:37 PM
jsantoyo.bsky.social
Multimodal scanning of genetic variants with base and prime editing. #GeneticVariants #PrimeEditing #NatureBiotechnology
www.nature.com/articles/s41...
Multimodal scanning of genetic variants with base and prime editing - Nature Biotechnology
Thousands of rare oncogene variants are evaluated using multimodal gene editing screens.
www.nature.com
November 12, 2024 at 11:12 PM
jsantoyo.bsky.social
Genetic variants affecting RNA stability influence complex traits and disease risk. #RNAstability #DiseaseRisks #GeneticVariants #Genomics @natgenet.nature.com
www.nature.com/articles/s41...
September 12, 2025 at 11:15 AM