First, we have previously shown that it is possible to identify real copy number changes at VNTR loci using short oligonucleotide arrays [35] ; second, copy number changes at this locus were identified by multiple platforms in the current study; third, the association is nominally significant in both the Utah and Porto cohorts; fourth the locus is within the AZFb/c region.
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Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
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