#ARDaP can detect #genegain #SNPs #indels #genelossoffunction #copynumbervariation for conferring #AMR 💊🧫
Custom #databases can be tailored to any bacterial species of interest. #ARDaP for #Paeruginosa and #Hinfluenzae coming soon!
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
A really nice review for the clinicians out there by Evan Eichler on the role of #Genomics in the clinic NEJM nejm.org/doi/full/10.10…; themes include #structuralvariation #copynumbervariation #repeatexpansions #phasing etc.
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
Single cell copy-number variation analysis of primary and metastatic uveal melanomas.
Ref: go.nature.com/2RJ0WuN
#singlecell #scRNAseq #uvealmelanoma #copynumbervariation
#SaccharomycesCerevisiae #CopynumberVariation You need to read this ASAP. The complete article here: bit.ly/2wdtuTi
Biomark™ X streamlines workflows for applications demanding sensitivity and dynamic range at mid-to-high throughput, including #genotyping , #geneexpression , #sampleidentification and #copynumbervariation . This automated advantage enhances reproducibility: go.fluidigm.com/BiomarkX
Simultaneous Profiling of DNA Copy Number Variations and Transcriptional Programs in Single Cells using RNA-seq
Fig. Comparison of scRNA-seq normalization strategies
Ref: bit.ly/31IFGZy
#singlecell #scRNAseq #copynumbervariation #CNV #normalization #RTAM #sciCNV
Surgeons investigate the association between the copy number variation of the ASPN gene and acetabular dysplasia (AD) to identify a possible genetic structural variation that confers a risk of AD ow.ly/VZ2P50vZ5Oa #acetabulardysplasia #copynumbervariation #genetics
Our paper on copy number variation (CNV) of MHC genes in the Siamese fighting fish is out! Interestingly, one of the 3 class II genes shows CNV among individuals.🐠🐟🧬
Anson Wong Tszcc #MHC #copynumbervariation #Genomics #WGS #immunogenetics #Betta
doi.org/10.1007/s00251…
Using large scale genomic data from DDD, exome sequencing based #CNV calling demonstrates superior quality comparable to exon-level CMA in detecting pathogenic CNVs bit.ly/49AVorR Petr Danecek Eugene Gardner Matt Hurles #GIMO #CopyNumberVariation #exomesequencing #raredisease
New development in #Oncobench , the #cancer #diagnostic platform developed jointly by @Hopitaux_unige & SIB. In addition to guiding the interpretation of patients' #NGS #SequencingData , it now enables clinicians to reliably identify #CopyNumberVariation : tinyurl.com/yyuaw2x5
Community-level discussions were dynamic due to inter- & intra-genomic variation & #CopyNumberVariation across lineages. ITS2 will continue to be useful due to its familiarity, but authors need to highlight assumptions & acknowledge & discuss alternative interpretations.
#Chromosomal_Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or #Intellectual_Disability
doi.org/10.3343/alm.20…
#Annals_of_Laboratory_Medicine 2018; 38(5): 473-480
#CopyNumberVariation #DevelopmentalDelay #DiagnosticUtility #대한진단검사의학회
Rare copy number variation in posttraumatic stress disorder. By Adam X. Maihofer et al. MCG GHHS @ Augusta University #PTSD #genetics #copynumbervariation #psychiatry #OpenAccess nature.com/articles/s4138…
Improving healthcare across the lifespan: Adults with genetic conditions may benefit from continuation of integrative care models used in pediatric populations bit.ly/3VqV9uY #copynumbervariation #geneticdisease
The August issue of Genome Research is now live! New research on #copynumbervariation in malaria mosquitos, arthropod #retrotransposons , and more! --> ow.ly/nUu930pgBCa
We are excited to announce our agreement with DNA Software to offer secondary CNV analysis for use with the Biomark HD. ow.ly/8NbM30m6dMk #Genotyping #qPCR #CopyNumberVariation #Bioinformatics
Brain cells a mixed bag, genetically ow.ly/qtOk4 #genomics #single -cellgenomics #copynumbervariation #mutliplestates