公开(公告)号：US10851413B2

公开(公告)日：2020-12-01

申请号：US15503338

申请日：2015-08-12

申请人： Progenika Biopharma S.A.

发明人： Jorge Ochoa ,  David Arteta ,  Mariá José Illescas ,  Monica Lopez ,  Marianne Stef ,  Diego Tejedor ,  Antonio Martìnez

IPC分类号： G16B30/10 ,  C12Q1/6881 ,  C12Q1/6827

摘要： The present invention provides a method for genotyping alleles in at least one homologous genetic loci set, comprising: (i) providing a DNA-containing sample that includes said at least one homologous genetic loci set; (ii) performing PCR amplification of regions of said homologous genetic loci set using consensus sequence-specific primers, wherein said consensus sequence-specific primers bind to consensus sequences that are common to a plurality of genes within the genetic loci set, thereby generating a pool of amplification products; (iii) sequencing a plurality of said amplification products in order to determine the relative proportion of each nucleotide at each position in a sequencing read; (iv) performing a sequence alignment between the sequencing read results of (iii) and at least one reference sequence, which reference sequence corresponds to one of the genes in said homologous genetic loci set; and (v) performing genotype calling of the allele or alleles in said sample based on the relative proportion of each nucleotide at each of a plurality of discriminant positions in said alignment. Also disclose are related products, kits and systems for performing the method.