Nature

Significant variation between SNP-based HLA imputations in diverse populations: the last mile is the hardest

Four single nucleotide polymorphism (SNP)-based human leukocyte antigen (HLA) imputation methods (e-HLA, HIBAG, HLA*IMP:02 and MAGPrediction) were trained using 1000 Genomes SNP and HLA genotypes and ...
Nature

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Figure 1: Most TAR syndrome cases have a low-frequency regulatory variant and a rare null allele at the RBM8A locus. Figure 2: Effect of the regulatory SNPs on transcription factor binding, RBM8A ...
Nature

Pitfalls of predicting complex traits from SNPs

In many species, single-nucleotide polymorphism (SNP)–trait associations have been detected through genome-wide association studies (GWASs). In addition to the discovery of trait-associated variants ...