In our paper Hoehe et al. on “Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes” published in Nature Communications we describe the extent of sequence variation that exists between the two alleles of human individuals. Surprisingly, many genes in our genome harbor sequence variants that can manifest in the amino acid sequence, thus increase the repertoire of proteins that can be expressed in human cells.
This project was lead by Dr. Margret Hoehe from the Max-Planck-Institute for Molecular Genetics in Berlin, Germany.