A new way to find genetic variations removes bias from human genotyping

Since the first sequencing of the human genome more than 20 years ago, the study of human genomes has relied almost exclusively on a single reference genome to which others are compared to identify genetic variations. Scientists have long recognized that a single reference genome cannot represent human diversity and that using it introduces a pervasive bias into these studies. Now, they finally have a practical alternative. Researchers have introduced a new tool, called Giraffe, that can efficiently map new genome sequences to a ‘pangenome’ representing many diverse human genome sequences.

Source: sciencedaily.com

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