Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle.

ABSTRACT:

Background

There are 346 serologically defined red blood cell (RBC) antigens and 33 serologically defined platelet (PLT) antigens, most of which have known genetic changes in 45 RBC or six PLT genes that correlate with antigen expression. Polymorphic sites associated with antigen expression in the primary literature and reference databases are annotated according to nucleotide positions in cDNA. This makes antigen prediction from next-generation sequencing data challenging, since it uses genomic coordinates.

Study design and methods

The conventional cDNA reference sequences for all known RBC and PLT genes that correlate with antigen expression were aligned to the human reference genome. The alignments allowed conversion of conventional cDNA nucleotide positions to the corres

SUBMITTER: Lane WJ 

PROVIDER: S-EPMC5019240 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature