My main research objective is to investigate the Y chromosome structure in human population. Which deletions or duplications are manifesting in males? What phenotypical effect might copy number variants have on the carriers and are any haplogroups enriched for certain variations?
In collaboration with other groups I also study the expression patterns of X/Y homologs in the human developing central nervous system (spinal cord, medulla oblongata and midbrain), on tissue and single cell level.
Keywords: y chromosome azfc deletions duplications male infertility embryonal development male central nervous system snp array protocadherins neuroligins machine learning cell painting cell morphology
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