TY  - JOUR
AU  - Murphy, NM
AU  - Burton, M
AU  - Powell, DR
AU  - Rossello, FJ
AU  - Cooper, D
AU  - Chopra, A
AU  - Hsieh, MJ
AU  - Sayer, DC
AU  - Gordon, L
AU  - Pertile, MD
AU  - Tait, BD
AU  - Irving, HR
AU  - Pouton, CW
Y2  - 2020/12/21
Y1  - 2016/07/27
SN  - 2045-2322
UR  - http://hdl.handle.net/11343/256393
AB  - We describe a method for determining the parental HLA haplotypes of a single individual without recourse to conventional segregation genetics. Blood samples were cultured to identify and sort chromosome 6 by bivariate flow cytometry. Single chromosome 6 amplification products were confirmed with a single nucleotide polymorphism (SNP) array and verified by deep sequencing to enable assignment of both alleles at the HLA loci, defining the two haplotypes. This study exemplifies a rapid and efficient method of haplotyping that can be applied to any chromosome pair, or indeed all chromosome pairs, using a single sorting operation. The method represents a cost-effective approach to complete phasing of SNPs, which will facilitate a deeper understanding of the links between SNPs, gene regulation and protein function.
LA  - English
PB  - NATURE PUBLISHING GROUP
T1  - Haplotyping the human leukocyte antigen system from single chromosomes
DO  - 10.1038/srep30381
IS  - Scientific Reports
VL  - 6
IS  - 1
L1  - /bitstream/handle/11343/256393/PMC4961964.pdf?sequence=1&isAllowed=y
ER  -