HLA alleles and haplotypes observed in 263 US families.
作者： Kazutoyo Osoegawa , Kalyan C. Mallempati , Sridevi Gangavarapu , Arisa Oki , Ketevan Gendzekhadze
DOI: 10.1016/J.HUMIMM.2019.05.018
关键词:
摘要: The 17th International HLA and Immunogenetics Workshop (IHIW) conducted a project entitled "The Study of Haplotypes in Families by NGS HLA". We investigated the haplotypes 1017 subjects 263 nuclear families sourced from five US clinical immunogenetics laboratories, primarily as part evaluation related donor candidates for hematopoietic stem cell solid organ transplantation. parents these belonged to broad groups - African (72 parents), Asian (115), European (210), Hispanic (118) "Other" (11). High-resolution genotypes were generated each subject using next-generation sequencing (NGS) typing systems. identified family HaplObserve, software that builds reviewing allele segregation children. calculated haplotype frequencies within group, treating unrelated individuals. also standard measures global linkage disequilibrium (LD) conditional asymmetric LD ethnic used untruncated two-field names investigate patterns. Finally we demonstrated utility consensus DNA sequences identifying novel variants, confirming them at sequence level.
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