Augmented Reference, Haplotype Data Help Stanford Team Clinically Interpret West Family's Genomes | GenomeWeb

By Julia Karow

An improved version of the human reference genome that better represents the major alleles and includes ethnic-specific genetic variation will be crucial for the correct clinical interpretation of human genome sequence data, according to researchers at Stanford University who recently used such an "augmented reference genome" to interpret the genomes of former Solexa CEO John West, his wife, and his two children.

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