@article{fdi:010079552,
  title = {{G}enotyping complex structural variation at the malaria-associated human glycophorin locus using a {PCR}-based strategy},
  author = {{A}lgady, {W}. and {W}eyell, {E}. and {M}ateja, {D}. and {G}arcia, {A}ndr{\'e} and {C}ourtin, {D}avid and {H}ollox, {E}. {J}.},
  editor = {},
  language = {{ENG}},
  abstract = {{S}tructural variation in the human genome can affect risk of disease. {A}n example is a complex structural variant of the human glycophorin gene cluster, called {DUP}4, which is associated with a clinically significant level of protection against severe malaria. {T}he human glycophorin gene cluster harbours at least 23 distinct structural variants, and accurate genotyping of this complex structural variation remains a challenge. {H}ere, we use a polymerase chain reaction-based strategy to genotype structural variation at the human glycophorin gene cluster, including the alleles responsible for the {U}- blood group. {W}e validate our approach, based on a triplex paralogue ratio test, on publically available samples from the 1000 {G}enomes project. {W}e then genotype 574 individuals from a longitudinal birth cohort ({T}ori-{B}ossito cohort) using small amounts of {DNA} at low cost. {O}ur approach readily identifies known deletions and duplications, and can potentially identify novel variants for further analysis. {I}t will allow exploration of genetic variation at the glycophorin locus, and investigation of its relationship with malaria, in large sample sets at minimal cost, using standard molecular biology equipment.},
  keywords = {copy number variation ; genotyping ; glycophorin ; malaria ; structural variation},
  booktitle = {},
  journal = {{A}nnals of {H}uman {G}enetics},
  volume = {85},
  numero = {1},
  pages = {7--17},
  ISSN = {0003-4800},
  year = {2021},
  DOI = {10.1111/ahg.12405},
  URL = {https://www.documentation.ird.fr/hor/fdi:010079552},
}