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microarray snp genotype data  (Illumina Inc)


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    Illumina Inc microarray snp genotype data
    Microarray Snp Genotype Data, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/microarray snp genotype data/product/Illumina Inc
    Average 90 stars, based on 1 article reviews
    microarray snp genotype data - by Bioz Stars, 2026-05
    90/100 stars

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    Mapping of the CFTR locus in a nonconsanguineous CEPH family (Pedigree 3, see the section Methods), using variant data derived either ( A ) from exome sequencing or ( B ) from microarray SNP genotyping (Affymetrix SNP 6.0). Display of Chromosome 7 haplotypes was performed using Phaser [Carr et al., ]. In this display, blue and pink vertical bars denote the haplotypes inherited by the first affected offspring from the father and mother, respectively. The disease locus must be located in a region where all affected individuals share the same combination of maternal (pink) and paternal (blue) haplotypes as this first individual. This is denoted by a purple color in the central vertical bar (region of overlap between the affected paternal and maternal haplotypes). Unaffected offspring should be discordant with their affected siblings at the disease locus (i.e., no purple bar). In this example, the actual position of the CFTR gene is marked by a horizontal red line. It can be seen that the candidate region containing CFTR is considerably smaller in ( B ), due to the superior resolution and distribution of the microarray SNPs.

    Journal: Human Mutation

    Article Title: Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

    doi: 10.1002/humu.22818

    Figure Lengend Snippet: Mapping of the CFTR locus in a nonconsanguineous CEPH family (Pedigree 3, see the section Methods), using variant data derived either ( A ) from exome sequencing or ( B ) from microarray SNP genotyping (Affymetrix SNP 6.0). Display of Chromosome 7 haplotypes was performed using Phaser [Carr et al., ]. In this display, blue and pink vertical bars denote the haplotypes inherited by the first affected offspring from the father and mother, respectively. The disease locus must be located in a region where all affected individuals share the same combination of maternal (pink) and paternal (blue) haplotypes as this first individual. This is denoted by a purple color in the central vertical bar (region of overlap between the affected paternal and maternal haplotypes). Unaffected offspring should be discordant with their affected siblings at the disease locus (i.e., no purple bar). In this example, the actual position of the CFTR gene is marked by a horizontal red line. It can be seen that the candidate region containing CFTR is considerably smaller in ( B ), due to the superior resolution and distribution of the microarray SNPs.

    Article Snippet: Exome variant data were only available for two affected siblings, while Affymetrix SNP 6.0 microarray SNP genotype data were available for a third affected sibling and two unaffected siblings.

    Techniques: Variant Assay, Derivative Assay, Sequencing, Microarray