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dna copy number aberrations  (Thermo Fisher)


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    Thermo Fisher dna copy number aberrations
    Dna Copy Number Aberrations, supplied by Thermo Fisher, used in various techniques. Bioz Stars score: 99/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/genechip+human+mapping+microarray/DNA/pmc01872004-5276-13-32
    Average 99 stars, based on 1 article reviews
    dna copy number aberrations - by Bioz Stars, 2026-11
    99/100 stars

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    Related Articles

    other:

    Article Title: A national study confirms a low occurrence of antimicrobial resistance amongst Escherichia coli isolates from the caecae of Australian meat chickens
    Article Snippet: DNA was extracted using the MagMAX Multi-Sample DNA Extraction Kit (Thermo Fisher Scientific, USA), following the manufacturer’s instructions.

    Article Title: Combinatorial engineering of enzyme and pathway for efficient β-farnesene bioproduction in Yarrowia lipolytica
    Article Snippet: The codon-optimized exogenous AaFS gene and its mutant variants synthesized by GenScript (Nanjing, China) were tailored for Y. lipolytica expression.

    Article Title: Integrative genomic analysis and gene expression patterns reveal a cardio-neuroendocrine signaling network for heat adaptation in geographically diverse chickens
    Article Snippet: DNA extraction was performed, checked for DNA quality using 1% agarose gel electrophoresis and NanoDrop 2000 (A260/280 ratio), and finally libraries were sequenced on the DNBSEQ-T7 platform.

    Concentration Assay:

    Article Title: Development of a high-resolution multiplex qPCR method to profile microbial consortia in spaceflight water recovery systems
    Article Snippet: 3 mL of broth culture from each strain was harvested by centrifugation and the genomic DNA was extracted using the DNeasy Blood & Tissue Kit (Qiagen), following the manufacturer's protocol for cultured cells. .. DNA concentration and purity were assessed using a NanoDrop spectrophotometer. ..

    Article Title: Integrated genomic, transcriptomic, and metabolomic profile analysis reveals molecular mechanism underlying meat quality traits in Chinese Kangle chickens
    Article Snippet: .. We extracted genomic DNA from blood samples using the phenol/chloroform method and quantified DNA concentration/quality using a Nanodrop-2000 spectrophotometer (Thermo Fisher Scientific, MA, USA). .. In total, 273 Chinese Kangle chickens were genotyped for 52,180 SNPs using the “Jingxin NO.1” 55 K Beadchip by following the manufacturer's protocol (Chinese Academy of Agricultural Sciences, Beijing, China) ( ).

    Spectrophotometry:

    Article Title: Development of a high-resolution multiplex qPCR method to profile microbial consortia in spaceflight water recovery systems
    Article Snippet: 3 mL of broth culture from each strain was harvested by centrifugation and the genomic DNA was extracted using the DNeasy Blood & Tissue Kit (Qiagen), following the manufacturer's protocol for cultured cells. .. DNA concentration and purity were assessed using a NanoDrop spectrophotometer. ..

    Article Title: Integrated genomic, transcriptomic, and metabolomic profile analysis reveals molecular mechanism underlying meat quality traits in Chinese Kangle chickens
    Article Snippet: .. We extracted genomic DNA from blood samples using the phenol/chloroform method and quantified DNA concentration/quality using a Nanodrop-2000 spectrophotometer (Thermo Fisher Scientific, MA, USA). .. In total, 273 Chinese Kangle chickens were genotyped for 52,180 SNPs using the “Jingxin NO.1” 55 K Beadchip by following the manufacturer's protocol (Chinese Academy of Agricultural Sciences, Beijing, China) ( ).

    Viscosity:

    Article Title: Protocol for the assessment of the impact of mycotoxins and glyphosate residues on the gut microbiome and resistome of European fallow deer
    Article Snippet: .. Qubit quantification indicated acceptable DNA concentrations; however, NanoDrop measurements showed low 260/230 ratios (e.g., 0.3–1.2), and the DNA exhibited a brown coloration and increased viscosity. ..

    Modification:

    Article Title: Amino acid starvation and iron limitation facilitate the biofilm formation of Klebsiella pneumoniae within urine
    Article Snippet: .. All enzymes required for restriction digestion and DNA modification were sourced from Thermo Fisher Scientific (Waltham, MA, USA) and handled in accordance with the supplier's protocols. .. All enzymes required for restriction digestion and DNA modification were sourced from Thermo Fisher Scientific (Waltham, MA, USA) and handled in accordance with the supplier's protocols.

    Purification:

    Article Title: Identification of biofilm-associated genes in Arcobacter butzleri
    Article Snippet: For that, the DNA of the P8 strain was extracted using Lysing Matrix E tubes (MP Biomedicals, France) and a Bead Mill 4 Mini Homogenizer (Fisher Scientific, USA). .. After purification with AMPure XP beads (Beckman Coulter, USA), DNA quantification was performed by a Qubit fluorometer (Invitrogen, USA) using the Qubit 1X dsDNA HS assay kit (Invitrogen, USA). .. DNA libraries were then prepared using the Rapid Sequencing Kit V14 (Oxford Nanopore Technologies, UK) and loaded into a Flonge flow cell (Oxford Nanopore Technologies, UK) for sequencing.

    Qubit:

    Article Title: Identification of biofilm-associated genes in Arcobacter butzleri
    Article Snippet: For that, the DNA of the P8 strain was extracted using Lysing Matrix E tubes (MP Biomedicals, France) and a Bead Mill 4 Mini Homogenizer (Fisher Scientific, USA). .. After purification with AMPure XP beads (Beckman Coulter, USA), DNA quantification was performed by a Qubit fluorometer (Invitrogen, USA) using the Qubit 1X dsDNA HS assay kit (Invitrogen, USA). .. DNA libraries were then prepared using the Rapid Sequencing Kit V14 (Oxford Nanopore Technologies, UK) and loaded into a Flonge flow cell (Oxford Nanopore Technologies, UK) for sequencing.



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    Blood and bone marrow smears, characterization of the SLC35A1 mutation in the family, and the capillary electrophoresis transferrin profile. Blood (A) and bone marrow (B) smears of patient II:1 were stained with May-Grünwald Giemsa reagent. The blood smear showed the presence of large platelets (relative to the size of red blood cells). The MKs from patient II:1’s bone marrow were immature (ii), as characterized by small size, hypolobulation and a basophilic cytoplasm, and (ii) granular MKs. C) The family’s pedigree, and Sanger sequencing results. Arrows indicate the position of the mutated nucleotide. Genetic mapping of disease loci in the family was carried out using an Affymetrix <t>GeneChip</t> Human Mapping <t>250K</t> <t>NspI</t> <t>SNP</t> <t>microarray.</t> Multipoint linkage analysis of single-nucleotide polymorphism (SNP) data was performed using Alohomora and Merlin software. We performed homozygosity mapping of SNP data, and found 18 candidate loci of at least 1 Mb in size with a maximum logarithm of odds score (Zmax) of 1.8. Whole exome sequencing (WES) was performed in DNA from the index case (II:1), using the Exome Capture Agilent SureSelect XT V5 kit for library preparation and exome enrichment. Sequencing was performed on a Genome Analyzer IIx Illumina instrument in paired-end mode with a read length of 2x100bp. The median WES coverage was 60. Reads were aligned with the human reference genome sequence (UCSC hg19, NCBI build 37.3) using the BWA software package. Variants were selected using SAMtools, and then annotated using Annovar software. Variants in coding regions (including non-synonymous and nonsense mutations), intron-exon junctions or short coding insertions or deletions were selected when the minor allele frequency was less than 0.0030. The homozygous c.439T>C mutation in SLC35A1 was confirmed by Sanger sequencing, using primers flanking the mutations (SLC960-F: 5’-GCCCGGCCATTATCAAATA-3’, SLC960-R: 5’-AAATCAAAGAAATGTAGTCATGCTG-3’) in both affected individuals. Both affected individuals were homozygous for the mutation (II:1 and II:2, c.439T>C: p.Ser147Pro). The nucleotide and amino acid changes are indicated with respect to the reference sequences (Genbank: NM_006416.4 and NP_006407.1, respectively). Open symbols: unaffected; filled symbols: affected. D) The capillary electrophoresis transferrin profile for a control (top panel) and for patient II:1 (bottom panel) was performed as previously described.15 x axis: the migration time in arbitrary units. y axis: the optical density in arbitrary units. 5-sialo, 4-sialo, 3-sialo, 2-sialo, and 0-sialo: penta-, tetra-, tri-, di- and asialotransferrin, respectively. The isoform distributions for the control and for patient II:1 are indicated in the table.
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    Image Search Results


    Blood and bone marrow smears, characterization of the SLC35A1 mutation in the family, and the capillary electrophoresis transferrin profile. Blood (A) and bone marrow (B) smears of patient II:1 were stained with May-Grünwald Giemsa reagent. The blood smear showed the presence of large platelets (relative to the size of red blood cells). The MKs from patient II:1’s bone marrow were immature (ii), as characterized by small size, hypolobulation and a basophilic cytoplasm, and (ii) granular MKs. C) The family’s pedigree, and Sanger sequencing results. Arrows indicate the position of the mutated nucleotide. Genetic mapping of disease loci in the family was carried out using an Affymetrix GeneChip Human Mapping 250K NspI SNP microarray. Multipoint linkage analysis of single-nucleotide polymorphism (SNP) data was performed using Alohomora and Merlin software. We performed homozygosity mapping of SNP data, and found 18 candidate loci of at least 1 Mb in size with a maximum logarithm of odds score (Zmax) of 1.8. Whole exome sequencing (WES) was performed in DNA from the index case (II:1), using the Exome Capture Agilent SureSelect XT V5 kit for library preparation and exome enrichment. Sequencing was performed on a Genome Analyzer IIx Illumina instrument in paired-end mode with a read length of 2x100bp. The median WES coverage was 60. Reads were aligned with the human reference genome sequence (UCSC hg19, NCBI build 37.3) using the BWA software package. Variants were selected using SAMtools, and then annotated using Annovar software. Variants in coding regions (including non-synonymous and nonsense mutations), intron-exon junctions or short coding insertions or deletions were selected when the minor allele frequency was less than 0.0030. The homozygous c.439T>C mutation in SLC35A1 was confirmed by Sanger sequencing, using primers flanking the mutations (SLC960-F: 5’-GCCCGGCCATTATCAAATA-3’, SLC960-R: 5’-AAATCAAAGAAATGTAGTCATGCTG-3’) in both affected individuals. Both affected individuals were homozygous for the mutation (II:1 and II:2, c.439T>C: p.Ser147Pro). The nucleotide and amino acid changes are indicated with respect to the reference sequences (Genbank: NM_006416.4 and NP_006407.1, respectively). Open symbols: unaffected; filled symbols: affected. D) The capillary electrophoresis transferrin profile for a control (top panel) and for patient II:1 (bottom panel) was performed as previously described.15 x axis: the migration time in arbitrary units. y axis: the optical density in arbitrary units. 5-sialo, 4-sialo, 3-sialo, 2-sialo, and 0-sialo: penta-, tetra-, tri-, di- and asialotransferrin, respectively. The isoform distributions for the control and for patient II:1 are indicated in the table.

    Journal: Haematologica

    Article Title: A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation

    doi: 10.3324/haematol.2018.198028

    Figure Lengend Snippet: Blood and bone marrow smears, characterization of the SLC35A1 mutation in the family, and the capillary electrophoresis transferrin profile. Blood (A) and bone marrow (B) smears of patient II:1 were stained with May-Grünwald Giemsa reagent. The blood smear showed the presence of large platelets (relative to the size of red blood cells). The MKs from patient II:1’s bone marrow were immature (ii), as characterized by small size, hypolobulation and a basophilic cytoplasm, and (ii) granular MKs. C) The family’s pedigree, and Sanger sequencing results. Arrows indicate the position of the mutated nucleotide. Genetic mapping of disease loci in the family was carried out using an Affymetrix GeneChip Human Mapping 250K NspI SNP microarray. Multipoint linkage analysis of single-nucleotide polymorphism (SNP) data was performed using Alohomora and Merlin software. We performed homozygosity mapping of SNP data, and found 18 candidate loci of at least 1 Mb in size with a maximum logarithm of odds score (Zmax) of 1.8. Whole exome sequencing (WES) was performed in DNA from the index case (II:1), using the Exome Capture Agilent SureSelect XT V5 kit for library preparation and exome enrichment. Sequencing was performed on a Genome Analyzer IIx Illumina instrument in paired-end mode with a read length of 2x100bp. The median WES coverage was 60. Reads were aligned with the human reference genome sequence (UCSC hg19, NCBI build 37.3) using the BWA software package. Variants were selected using SAMtools, and then annotated using Annovar software. Variants in coding regions (including non-synonymous and nonsense mutations), intron-exon junctions or short coding insertions or deletions were selected when the minor allele frequency was less than 0.0030. The homozygous c.439T>C mutation in SLC35A1 was confirmed by Sanger sequencing, using primers flanking the mutations (SLC960-F: 5’-GCCCGGCCATTATCAAATA-3’, SLC960-R: 5’-AAATCAAAGAAATGTAGTCATGCTG-3’) in both affected individuals. Both affected individuals were homozygous for the mutation (II:1 and II:2, c.439T>C: p.Ser147Pro). The nucleotide and amino acid changes are indicated with respect to the reference sequences (Genbank: NM_006416.4 and NP_006407.1, respectively). Open symbols: unaffected; filled symbols: affected. D) The capillary electrophoresis transferrin profile for a control (top panel) and for patient II:1 (bottom panel) was performed as previously described.15 x axis: the migration time in arbitrary units. y axis: the optical density in arbitrary units. 5-sialo, 4-sialo, 3-sialo, 2-sialo, and 0-sialo: penta-, tetra-, tri-, di- and asialotransferrin, respectively. The isoform distributions for the control and for patient II:1 are indicated in the table.

    Article Snippet: Genetic mapping of disease loci in the family was carried out using an Affymetrix GeneChip Human Mapping 250K NspI SNP microarray.

    Techniques: Mutagenesis, Electrophoresis, Staining, Sequencing, Microarray, Software, Migration