Bluefuse multi software v4

Manufactured by Illumina

Sourced in United States

BlueFuse Multi software v4.1 is a bioinformatics analysis tool developed by Illumina. It is designed to process and analyze data generated from various Illumina sequencing platforms, including whole-genome, whole-exome, and targeted sequencing experiments. The software provides a comprehensive set of features for variant calling, annotation, and interpretation.

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Lab products found in correlation

Cytosnp850k array, by Illumina (2 mentions) Gentra puregene kit, by Qiagen (1 mentions) Infinium cytosnp 850k beadchip, by Illumina (1 mentions) Beadarray reader, by Illumina (1 mentions) Human cytosnp 12v2.1 beadchip array, by Illumina (1 mentions) Qiaamp dna blood mini kit, by Qiagen (1 mentions) Human pluripotent stem cell functional identification kit, by R&D Systems (1 mentions) Nanodrop, by Thermo Fisher Scientific (1 mentions)

Spelling variants of this product

BlueFuse Multi software (22 citations) BlueFuse Multi v4.4 (11 citations) BlueFuse Multi (11 citations) BlueFuse software (8 citations)

4 protocols using bluefuse multi software v4

Detecting 8q21.3 Microdeletions Using SNP Array

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DNA was extracted from peripheral blood, using Gentra Puregene kit (QIAGEN Hilden, Germany). A single nucleotide polymorphism array (Illumina Infinium CytoSNP-850 K Beadchip, Illumina, San Diego, CA, USA) was performed and analyzed using BlueFuse Multi software v4.1 (Illumina). The Database of Genomic Variants (DGV) and the Thai CNV database [13 (link)] were used to exclude common structural variations in the Thai population.
In an attempt to enroll additional patients into the study, we reviewed curated databases, ClinGen and DECIPHER, searching for patients described as having small (~5Mb or less) microdeletions of the 8q21.3 region.

Phetthong T., Khongkrapan A., Jinawath N., Seo G.H, & Wattanasirichaigoon D. (2021). Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability. Genes, 12(10), 1583.

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Genetic Profiling via Illumina SNP Array

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The gDNA (200 ng) was hybridized onto the HumanCytoSNP-12 (v2.1) BeadChip array (Illumina, San Diego, CA), according to the manufacturer’s protocol. The array was scanned with a BeadArray Reader (Illumina) and the scan was analyzed with the BlueFuse Multi software v4.1 (Illumina). The detection limit of the SNP arrays was 15 % of cell clones.

Lhotska H., Zemanova Z., Cechova H., Ransdorfova S., Svobodova K., Kramar F., Krejcik Z, & Michalova K. (2016). Primary and recurrent diffuse astrocytomas: genomic profile comparison reveals acquisition of biologically relevant aberrations. Molecular Cytogenetics, 9, 13.

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Characterization of Induced Pluripotent Stem Cells

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Induced PSCs were stained for nanog, OCT4, SOX2 and SSEA-4. For pluripotency analysis, iPSCs were allowed to differentiate spontaneously in mTeSR-1 media or randomly differentiated using the Human Pluripotent Stem Cell Functional Identification Kit (#SC027; R&D Systems) and stained for markers of the three germ layers. All iPSCs generated cells of all three germ layers, assessed by positive immunoreactivity for β-III-tubulin for ectoderm, smooth muscle actin for mesoderm and SOX17 for endoderm. For the array CGH, DNA was extracted using the QIAamp DNA Blood Mini kit (Qiagen) according to manufacturer’s protocol and eluted in nuclease-free water. Eluted DNA was processed for analysis by Illumina CytoSNP 850K array per manufacturer protocol. Data was processed and CNV calls generated with BlueFuse Multi Software v4.2 (Illumina). CNV calls by SNP array were reported using standard clinical thresholds in the UCSF Clinical Cytogenetics Laboratory, including annotation of any CNVs >200kb. Interpretation of clinical significance was done per standard American College of Medical Genetics guidelines (Kearney et al., 2011 (link)). See Table S2 for array CGH results.

Deshpande A., Yadav S., Dao D.Q., Wu Z.Y., Hokanson K.C., Cahill M.K., Wiita A.P., Jan Y.N., Ullian E.M, & Weiss L.A. (2017). Cellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder. Cell reports, 21(10), 2678-2687.

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DNA Extraction and CNV Analysis

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DNA was extracted from HEK293T or iPSC samples using QIAgen miniprep kit and quantified by Nanodrop (Thermo Fisher). DNA was processed for analysis by Illumina CytoSNP 850 K array according to the manufacturer’s protocol. Data were processed, and CNV calls were generated with BlueFuse Multi Software v4.2 (Illumina). CNV calls by SNP array were reported using standard clinical thresholds in the University of California San Francisco Clinical Cytogenetics Laboratory, including annotation of any CNVs > 500 kb. Interpretation of clinical significance was done according to standard American College of Medical Genetics guidelines^{25 (link)}.

Paranjape N., Lin Y.H., Flores-Ramirez Q., Sarin V., Johnson A.B., Chu J., Paredes M, & Wiita A.P. (2023). A CRISPR-engineered isogenic model of the 22q11.2 A-B syndromic deletion. Scientific Reports, 13, 7689.

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