Top Tweets for #CopyNumberVariation
📘Read in #JEV📘 DNA Copy Number Profiling in Extracellular Vesicles as Clinical Biomarkers of High-Grade Serous Ovarian Carcinoma #copynumbervariation #extracellularvesicles #evdna #ovariancancer https://t.co/tWH10jQ8vV
Performance Evaluation of Whole-Genome Amplification Platforms for Clinical Next-Generation Sequencing with Minimal Nucleic Acid Input
🌷https://t.co/c8v1Ytkjy7
Ann Lab Med. November 24, 2025. Namsoo Kim
#AllelicDropout #Chimerism #CopyNumberVariation #NextGenerationSequencing
✨#HighlyViewed✨
🔗https://t.co/Y9MFSRUgdS
#Cells #HumanPluripotentStemCells #GeneticInstability #CopyNumberVariation
🔒 #HighCitedPaper
DPYD Exon 4 Deletion Associated with Fluoropyrimidine Toxicity and Importance of Copy Number Variation
https://t.co/VlEekzjLDP
Cited more than 5 times!
#fluoropyrimidines #pharmacogenetics #copynumbervariation
Benchmarking scRNA-seq #CopyNumberVariation callers
6 methods
InferCNV
CONICSmat
CaSpER
copyKAT
Numbat
SCEVAN
mapped to 100 kB bins
👉Performance on Euploid vs Aneuploid/Tumor datasets
👉Automatic detection of tumor cells
👉Differential sensitivity/specificity to gain, base, or loss
👉vs ground genomic truth (WES/WGS CNV<-GATK4 CNVkit ichorCNA)
@schmidkathe @colomemaria_epi bioRxiv 2024
https://t.co/2f8RNkktj3
Genome-wide analysis and visualization of copy number with CNVpytor in igv.js. #CopyNumberVariation #CNV #Bioinformatics
https://t.co/fhr7X4xbS1
Tumor-like properties of #SmoothMuscleCell-derived lesional cells in #Atherosclersis🤠
Fascinating! SMC-derived lesional cells (not-so SMC per se) exhibit
1⃣Genomic instability
#DNADamage #CopyNumberVariation (CopyKAT/InferCNV)
2⃣Activated Cancer-like signals
3⃣Stem-like growth
Clonality; Non-senescence in vivo & in vitro
SMC-specific KRasG12D transgene aggravates atherogenesis! Are those SMC-riched lesions more vulnerable?😁
Do senescent medial SMC function as a pro-atherosclerotic/cancerous stroma?😆
Amazing & surprising: a PARP inhibitor niraparib⏬DNA damage burden of SMC-derived lesional cells?🧐
@PanHuize Muredach Reilly lab @CircAHA 2024 @LarsMaeg @hanrui_zhang
https://t.co/7CO6I3qpnD
Improving healthcare across the lifespan: Adults with genetic conditions may benefit from continuation of integrative care models used in pediatric populations https://t.co/9cc0aQ17MH #copynumbervariation #geneticdisease
CLIPPR combines top-performing #singlecell models with RNA-inferred #copynumbervariation (CNV) signals and an initial bulk model to create a meta-model. - @bcmhouston https://t.co/soATCIIzbn
Using large scale genomic data from DDD, exome sequencing based #CNV calling demonstrates superior quality comparable to exon-level CMA in detecting pathogenic CNVs https://t.co/GzKLdOGQEC @petrdanecek @DrGeneUK @mehurles #GIMO #CopyNumberVariation #exomesequencing #raredisease
STmut
Inferring+Visualizing #SomaticMutation #CopyNumberVariation Germline SNP/#AllelicImbalance in Tumor #SpatialTranscriptomics
#SomaticMutation SNP
Frozen #Visium (sequencing-based ST needed) matched DNAseq needed
CNV: Also work with FFPE #Visium
matched DNAseq not required
@ShainLab @GenomeBiology 2023
https://t.co/widKJJ6Pl6
Read #NewPaper "Adaptive Savitzky–Golay Filters for Analysis of Copy Number Variation Peaks from Whole-Exome Sequencing Data" from Mr. Peter Juma Ochieng and etc.
@jumapeter88
See more details at:
https://t.co/VldJjvtVAH
#copyNumberVariation
Our framework for detecting CNVs in genomic data is out now. #cnv #rcnv #copynumbervariation #genomics #rstatistics #NGS
https://t.co/1BZUhZ87bF
🧬Excited to share #copynumbervariation ⬆️ on Chr 7 & ⬇️ 21 in #inflammatorybreastcancer patients
🫶🏽 Grateful to @IBC_DanaFarber @FilipaLynce
📃 @Cells_MDPI https://t.co/ByhfkZCA9z
🚶🏽♀️Support #IBC https://t.co/Hr3IxwdZJI
#CNVs #bcsm #egfr @MDPIOpenAccess
#SupermanAndLois
Our new R package
A new framework for detecting copy number variants from single nucleotide polymorphism data: 'rCNV', a versatile R package for paralogs and CNVs detection https://t.co/DAUOIcb5RO
#RStats #genetics #copynumbervariation
Rare copy number variation in posttraumatic stress disorder. By Adam X. Maihofer et al. @AUG_MCGGHHS #PTSD #genetics #copynumbervariation #psychiatry #OpenAccess https://t.co/KW7Qvu8R91
Another great application for CytoScan HD in Reproductive Health and fertility treatments 👇🏼
#maleinfertility #cytogenetics #CopyNumberVariation #ReproductiveHealth
https://t.co/JTX7zki1UA
New @CO90s research project approved: Meta-analysis of #CopyNumberVariation in #LargeConsortia Kimberley Burrows @BristolUni https://t.co/CIzPy2nRKZ
#Copynumbervariation information inferred from #RNAseq can be highly informative to guide disease classification and risk stratification in acute lymphoblastic #leukemia due to the high incidence of aneuploid subtypes within this disease. @CharlesUniPRG https://t.co/eQPTQn7Qjo
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