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Structural genomic variation analysis in patients with bone marrow failure using Illumina Infinium SNP Arrays [Omni1-Quad]

ABSTRACT: To better understand the natural history of bone marrow failure syndromes, we analyzed 124 single nucleotide polymorphism arrays (SNP-A) from a comprehensively characterized cohort of 91 patients who had SNP-A for clinical evaluation of BMFS. 67 samples from 51 patients were genotyped with the Quad610, and 57 samples from 54 patients were genotyped with the Omni1-Quad. This submission includes 55 samples from 54 patients that were genotyped with Omni1-Quad.

ORGANISM(S): Homo sapiens

PROVIDER: GSE48482 | GEO | 2014/01/01

SECONDARY ACCESSION(S): PRJNA210313

REPOSITORIES: GEO

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Structural genomic variation analysis in patients with bone marrow failure using Illumina Infinium SNP Arrays [Omni1-Quad]

Project description:To better understand the natural history of bone marrow failure syndromes, we analyzed 124 single nucleotide polymorphism arrays (SNP-A) from a comprehensively characterized cohort of 91 patients who had SNP-A for clinical evaluation of BMFS. 67 samples from 51 patients were genotyped with the Quad610, and 57 samples from 54 patients were genotyped with the Omni1-Quad. This submission includes 55 samples from 54 patients that were genotyped with Omni1-Quad. Illumina Infinium SNP-A genotyping was performed on DNA extracted from bone marrow aspirates using standard manufacturer's protocol

2014-01-01 | E-GEOD-48482 | biostudies-arrayexpress

Structural genomic variation analysis in patients with bone marrow failure using Illumina Infinium SNP Arrays [Illumina Quad610 Beadchip]

Project description:To better understand the natural history of bone marrow failure syndromes, we analyzed 124 single nucleotide polymorphism arrays (SNP-A) from a comprehensively characterized cohort of 91 patients who had SNP-A for clinical evaluation of BMFS. 67 samples from 51 patients were genotyped with the Quad610, and 57 samples from 54 patients were genotyped with the Omni1-Quad. This submission includes 67 samples from 51 patients that were genotyped with Illumina Quad610 Beadchip.

2014-01-01 | GSE48483 | GEO

Structural genomic variation analysis in patients with bone marrow failure using Illumina Infinium SNP Arrays [Illumina Quad610 Beadchip]

Project description:To better understand the natural history of bone marrow failure syndromes, we analyzed 124 single nucleotide polymorphism arrays (SNP-A) from a comprehensively characterized cohort of 91 patients who had SNP-A for clinical evaluation of BMFS. 67 samples from 51 patients were genotyped with the Quad610, and 57 samples from 54 patients were genotyped with the Omni1-Quad. This submission includes 67 samples from 51 patients that were genotyped with Illumina Quad610 Beadchip. Illumina Infinium SNP-A genotyping was performed on DNA extracted from bone marrow aspirates using standard manufacturer's protocol

2014-01-01 | E-GEOD-48483 | biostudies-arrayexpress

Genotyping of paired samples of normal colon and colon adenocarcinoma to estimate copy-number alterations

Project description:22 pairs of normal colon\colon adenocarcinoma samples were genotyped using Illumina HumanOmni1-Quad BeadChip to estimate copy number alterations

2013-02-01 | GSE43933 | GEO

Genotyping of paired samples of normal colon and colon adenocarcinoma to estimate copy-number alterations

Project description:22 pairs of normal colon\colon adenocarcinoma samples were genotyped using Illumina HumanOmni1-Quad BeadChip to estimate copy number alterations Genomic DNA of 22 colon adenocarcinoma samples and 22 corresponding normal colon samples were genotyped using Illumina HumanOmni1-Quad BeadChip to estimate copy number alterations.

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The Genetic Legacy of the Expansion of Turkic-Speaking Nomads Across Eurasia

Project description:We genotyped 322 new samples from 38 Eurasian populations and combined it with previously published data to characterize the population structure of Turkic-speaking populations in the context of their geographic neighbors across Eurasia 322 samples were analysed with the Illumina Human610-Quad, Human660W-Quad, and HumanOmni1-Quad Genotyping BeadChips and are described herein.

2015-02-21 | E-GEOD-66157 | biostudies-arrayexpress

Compatibility of distinct label-free proteomic workflows in absolute quantification of proteins linked to the oocyte quality in human follicular fluid (the Quad-Orbitrap workflow)

Project description:We present a comprehensive analysis of human follicular fluid proteome by comparing several strategies of sample preparation, mass spectrometry analysis, and data processing, resulting in the identification of 1638 proteins. We devised two separate label-free quantitative workflows, termed after the utilized mass spectrometer: Triple Quad-TOF and Quad-Orbitrap, and analyzed their performance in absolute protein quantification assisted by Total Protein Approach. In a pilot study of twenty samples linked to diverse oocyte quality status from four donors, 215 and 455 proteins were quantified by the Triple Quad-TOF and Quad-Orbitrap workflows, respectively. The concentration values obtained from both workflows correlated to a significant degree. We found reasonable agreement of both workflows in protein fold changes between tested groups, resulting in unified lists of 21 and 24 proteins, linked to oocyte maturity and blastocyst development, respectively. The Quad-Orbitrap workflow was best suited for an in-depth analysis, especially of low abundant proteome, whereas the Triple Quad-TOF workflow allowed a more robust approach with a greater potential to increase in effectiveness with the growing number of analyzed samples.

2021-07-23 | PXD024347 | Pride

Compatibility of distinct label-free proteomic workflows in absolute quantification of proteins linked to the oocyte quality in human follicular fluid (the Triple-Quad TOF workflow)

2021-07-23 | PXD024223 | Pride

Whole genome SNP array of 32 look-alike human couples

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Whole genome SNP array of 16 look-alike human couples

Project description:The Illumina Infinium HumanOmni5-Quad BeadChip was used to obtain genomewide SNP profiling of 16 human couples (32 individuals), selected by their facial resemblance.

2022-08-23 | GSE142300 | GEO

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