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  • polpol
    Junior Member
    • Jan 2015
    • 3

    #1

    ISCN Cytogenetic Nomenclature - from genomic coordinates

    Hi,

    I got a large table with genomic coordinates of CNV found in our cohort:

    CNV
    chr1:146458850-148003653
    I would like to add the following data to the table :
    International System for Human Cytogenetic Nomenclature(ISCN), cnv size, names of genes /amount of genes in the genomic region, amount of OMIM genes and OMIM description:

    CNV ISCN geneName num_genes num_omim_genes omim_num omim_name
    chr1:146458850-148003653 1.q.21.1 NEGR1 1 1 613173 NEURONAL GROWTH REGULATOR 1; NEGR1
    What is the best program/tool/package for this? Maybe an R package?

    Thank you very much,

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