Result Summary Table ==================== This table summurized information available from output files produced by *pyGenClean* during the data clean up procedure. Numbers correspond to number of lines in output files see :ref:`proposed_protocol_label` for details. Only removed SNPs and IDs are indicated in the column SNPs and IDs, flagged SNPs or IDs are present in the :math:`n` column. .. tabularcolumns:: p{11.5cm}rrr .. _result_summary_table: .. table:: Summary information of the data clean up procedure. +---------------------------------------+---------------+-----------+-------+ | Description | :math:`n` | SNPs | IDs | +=======================================+===============+===========+=======+ | Total number of SNPs in file received | 2,379,855 | | | +---------------------------------------+---------------+-----------+-------+ | Total number of samples | 494 | | | +---------------------------------------+---------------+-----------+-------+ | Number of duplicate samples | 0 | | | +---------------------------------------+---------------+-----------+-------+ | Number of individuals with no | 0 | | | | genotype (failed) | | | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPs with no physical | 7,239 | -7,239 | | | position (chromosome and physical | | | | | position = 0) | | | | +---------------------------------------+---------------+-----------+-------+ | Number of INDEL | 43 | -43 | | +---------------------------------------+---------------+-----------+-------+ | Number of replicate controls | 5 | | | +---------------------------------------+---------------+-----------+-------+ | Number of replicate samples | 0 | | | +---------------------------------------+---------------+-----------+-------+ | Number of duplicate SNPs (by | 5,643 | | | | chromosome and physical position) | | | | +---------------------------------------+---------------+-----------+-------+ | Duplicated SNPs by chromosome and | 5,417 | -5,147 | | | physical position with the same | | | | | allele (merge) | | | | +---------------------------------------+---------------+-----------+-------+ | Number of duplicated SNP with <98% | 22 | -22 | | | concordance | | | | +---------------------------------------+---------------+-----------+-------+ | Completely failed SNPs | 1 | -1 | | +---------------------------------------+---------------+-----------+-------+ | All heterozogous SNPs | 0 | | | +---------------------------------------+---------------+-----------+-------+ | Number of individuals removed because | 5 | | -5 | | they have more than 10% missing | | | | | genotypes | | | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPs removed because they | 128,562 | -128,562 | | | have more than 2% missing value | | | | +---------------------------------------+---------------+-----------+-------+ | Number of individuals removed because | 7 | | -7 | | they have more than 2% missing | | | | | genotypes | | | | +---------------------------------------+---------------+-----------+-------+ | Number of individuals with gender | 1 | | | | problem | | | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPs with plate bias test P | 19 | | | | value below threshold of | | | | | :math:`1\times10^{-7}` | | | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPs used for IBS analysis | 73,651 | | | +---------------------------------------+---------------+-----------+-------+ | Number of duplicates pairs or twin | 1 | | | +---------------------------------------+---------------+-----------+-------+ | Number of related pairs | 2 | | | | (including twins) | | | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPs used for MDS analysis | 80,262 | | | +---------------------------------------+---------------+-----------+-------+ | Number of individuals with ethnicity | 20 | | | | other than Caucasian as detected by | | | | | MDS analysis | | | | +---------------------------------------+---------------+-----------+-------+ | Number of gender problems | 1 | | -1 | +---------------------------------------+---------------+-----------+-------+ | Number of related pairs | 2 | | -2 | +---------------------------------------+---------------+-----------+-------+ | Number of caucasian outliers | 20 | | -20 | +---------------------------------------+---------------+-----------+-------+ | Number of controls | 5 | | -5 | +---------------------------------------+---------------+-----------+-------+ | Number of heterozygote haploid | 277,206 | | | | genotypes set to missing (after | | | | | correction of gender problems) | | | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPs with MAF=0 | 602,480 | -602,480 | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPS with HWE test P Value | 603 | | | | below threshold of | | | | | :math:`1\times10^{-4}` and higher | | | | | than Bonferroni threshold | | | | +---------------------------------------+---------------+-----------+-------+ | Number of SNPS with HWE test below | 162 | -162 | | | Bonferroni threshold | | | | +---------------------------------------+---------------+-----------+-------+ | **Total number of SNPs** | **1,635,931** | | | +---------------------------------------+---------------+-----------+-------+ | **Total number of samples** | **454** | | | +---------------------------------------+---------------+-----------+-------+