Hello,
We have noticed that some structural variants in certain subpopulations were particularly enriched in homozygotes within repeated regions, for exemple DEL_CHR15_C65ED383, DEL_CHR15_3430BA77 and DEL_CHR15_FD0D5513 that appeared enriched in homozygotes in the Admixed American subpopulation.
We also found this interesting publication by Graffelman et al (DOI 10.1007/s00439-017-1786-7) about the link between Hardy Weinberg Disequilibrium and long-read sequencing errors and we would like to know if the enrichment in disequilibrium in some subpopulations could be due to such errors.
Thanks for your response,
Sincerely,
Mathis