#variantdetection search results
Reference-based variant detection with varseek. #VariantDetection #Genomics #Bioinformatics @biorxiv_bioinfo biorxiv.org/content/10.110…
CIEVaD is a lightweight workflow collection for quick and efficient genomic #VariantDetection testing! This open-source solution enhances data generation and variant evaluation, making genomic analysis more accessible. #Genomics 📄 doi.org/10.3390/v16091… EVBC👤: @akifoss
Generative Haplotype Prediction Outperforms Statistical Methods for Small Variant Detection in NGS Data. #VariantDetection #HaplotypePrediction #LLMs #Bioinformatics academic.oup.com/bioinformatics…
Freebayes is built on key principles of the Unix philosophy: modularity and stream processing. This approach enables seamless integration with various genomics workflows, enhancing the tool's versatility for researchers and developers. #GeneticResearch #VariantDetection
Freebayes stands out in the detection of minute genetic variations including SNPs, indels, MNPs, and more. It's unique from PolyBayes, samtools, & GATK due to its distinct approach. Learn more about this cutting-edge tool! #GeneticAnalysis #VariantDetection
#NGS plays a vital role in combating #respiratoryviruses—from identifying viruses and #variantdetection, to routine testing, to vaccine and therapy development. Read more from Steven Henck @DNAbiotech, Vice President of R&D, in ID Transmission here: bit.ly/3QTSPJh
Tumor Fraction Correlates With Detection of Actionable Variants Across > 23,000 Circulating Tumor DNA Samples | JCO Precision Oncology #ctDNA #variantdetection ascopubs.org/doi/10.1200/PO…
$BNGO We have an outstanding history of Bionano products, when it comes to ACMG standards for labs. #Nx #VariantDetection #NIPT 👌🧬
Our letter to @nytimes editor responding to #NIPT screening article has been published. ACMG Pres-Elect Dr. Susan Klugman explains these are screening, not diagnostic, tests; more definitive tests follow positive screens, & pretest counseling is crucial. nyti.ms/3HP5LtA
Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample. #SomaticMutation #VariantDetection #DeepLearning #Bioinformatics genomebiology.biomedcentral.com/articles/10.11… @GenomeBiology
Listen to our latest Talking Techniques episode with @BioRad to learn all about #ddPCR, from COVID-19 #VariantDetection to #GeneTherapy and #CancerResearch bit.ly/3unhGJB
PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. #VariantDetection #HaplotypeAware #PhasedCalling #Bioinformatics genomebiology.biomedcentral.com/articles/10.11… @GenomeBiology
Accuracy of somatic variant detection workflows for whole genome sequencing experiments. #WGS #VariantDetection #Benchmarkig biorxiv.org/content/10.110…
Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency. #Genomics #VariantDetection #Diagnostics #ClinicalPipelines jmdjournal.org/article/S1525-… @JMDiagn
scSNV: accurate dscRNA-seq SNV co-expression analysis using duplicate tag collapsing. #scRNAseq #VariantDetection genomebiology.biomedcentral.com/articles/10.11… @GenomeBiology
Reference-based variant detection with varseek. #VariantDetection #Genomics #Bioinformatics @biorxiv_bioinfo biorxiv.org/content/10.110…
Join us today at 3PM BST for our second webinar in our COVID & #Genomics Webinar series on #variantdetection and monitoring. Register to access the webinar here: buff.ly/3gd3mOQ
Genome-wide somatic variant calling using localized colored de Bruijn graphs go.nature.com/cb-ASHG-3 #variantdetection #ASHG18
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